Study Report

Comment on Study

View All Comments on Study

Basic Info

Reference	Georgi, B., 2014 PMID: 24625924
Citation	Georgi, B., et al. (2014). "Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate." PLoS Genet 10(3): e1004229.
Disease Type	Bipolar Disorder
Study Design	family-based & pedigree
Study Type	Genome-wide association study, Linkage study, Mutational study
Sample Size	497 individuals from a large pedigree were used for linkage analysis using microsatellite data. 388 out of them were used for genotyping using illumina Omni SNP array. 50 out of them were for whole genome sequencing, comprising 18 parent-child trios.
SNP/Region/Marker Size	11M SNPs of whole genome sequence data, 2.5M SNPs of illumina Omni SNP array, 2000 markers of microsatellite data.
Predominant Ethnicity	Caucasian
Population	Old Order Amish pedigree
Age Group	adults : The average age of onset for BPI patients was 24.6.

Detail Info

Sample Diagnosis	DSM-III/IV & RDC
Sample Status	The genetic-epidemiologic study of bipolar disorder among the Old Order Amish, in settlements throughout Pennsylvania, was documented extensively, including ascertainment protocols and diagnostic methods. Ascertainment of patient cases used aoscribe network' with assigned codes to ensure patient confidentiality. Structured interviews (SADS-L) were conducted with the patient and close others. Signed, informed consents were obtained to access medical records. Two forms were used: a) one with yearly Institutional Review Board (IRB, University of Miami) approval adhering to special guidelines because the Amish are defined as a vulnerable population; and b) a second using state approved, medical record consent forms for specific mental health clinics and psychiatric hospitals throughout central Pennsylvania. These were abstracted and collated for five members of the Psychiatric Board who wereÃ”blindÃ•to patient names, pedigree, address, admission/discharge diagnosis and treatment. Abstracted medical records and SADS-L interview materials were reviewed, often separated by several years, as a reliability check on diagnosis based on the two sources of information. The Psychiatric Board members used strict Research Diagnostic Criteria (RDC) and the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV) for uniform clinical criteria. Clinical assessments by the Psychiatric Board have continued since 1977 and BPI patients and relatives in the genetic study followed annually. Although there is a spectrum of Major Affective Disorders in the extended Amish pedigrees, the majority of Ã”affectedÃ• individuals are diagnosed as either BPI, BPII, or Major Depressive Disorder (MDD, recurrent) with only two subjects with Schizoaffective Disorder, BP Subtype. Course-of-illness over time is essential for ascertainment ofoonsetso given a variable age of onset. Onset of illness and the value of documented Owello relatives of a BPI as controls have been previously reported. The Coriell Institute of Medical Research (CIMR) in development of their national cell repository established Lymphoblastoid cell lines.
Technique	Genotyping was used with Illumina Omni 2.5 M SNP arrays; Whole genome sequencing (WGS) was performed by Complete Genomics Inc. using a sequence-by-ligation method.
Statistical Method	Whole genome sequencing (WGS) was performed by Complete Genomics Inc. using a sequence-by-ligation method. Paired-end reads of length 70 bp (35 bp at each end) were mapped to the National Center for Biotechnology Information (NCBI) human reference genome (build 37.2) using a Bayesian mapping pipeline. In genome-wide association analysis, rigorous quality control of the raw genotype calls was performed by applying a series of filters on both markers and samples using PLINK. We performed genome-wide association analysis using two different methods: (a) EMMAX, a method for case-control analysis with correction for relatedness among samples using mixed models and (b) FBAT, an extension of the classical transmission distortion test (TDT) to larger families. Parametric and non-parametric linkage analyses were performed using the MERLIN software version 1.1.2. MERLIN provides exact identity-by-descent (IBD) solutions based on the Lander-Green algorithm, which allows for the simultaneous analysis of the entire marker panel but is limited to pedigrees of small to medium size.
Result Summary	Despite the in-depth genomic characterization of this unique, large and multigenerational pedigree from a genetic isolate, there was no convergence of evidence implicating a particular set of risk loci or common pathways.

SNPs reported by this study for BD (count: 73)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs11074362	ITPRIPL2	C/T	GERP=3.41	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs330150	DNAH3	G/C	GERP=2.27	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs35254998	USP31	G/A	GERP=5.8	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs370175066	MKL2	C/T	GERP=5.84	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs17202961	LAMA3	C/A	GERP=5.46	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs115278913	CIDEA	G/A	GERP=3.99	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs13207753	TTLL2 TCP10		FBAT P-value=3.4E-05, EMMAX P-value=4.23E-05	SNPs with the strongest association (p = 5e-5 for both algor...... SNPs with the strongest association (p = 5e-5 for both algorithms) were rs13207753 (FBAT p=3.4e-5, EMMAX p=4.23e-5) in the intergenic region between Tubulin-tyrosine ligase-like protein 2 (TTLL2) and t-complex 10 homolog (TCP10) on chromosome 6. More...	Negative
rs13317247	GRM7		FBAT P-value=1.8E-05, EMMAX P-value=6.5E-06	SNPs with the strongest association (p < 5e-5 for both algor...... SNPs with the strongest association (p < 5e-5 for both algorithms) were rs13317247 (FBAT p=1.8e-5, EMMAX p=6.5e-6) in the intron of the metabotropic glutamate receptor 7 (GRM7) gene on chromosome 3. More...	Trend
rs58674863	GRM7		P-value=3.3E-04	It is noteworthy that there was a suggestive association sig...... It is noteworthy that there was a suggestive association signal located at rs58674863 (p=3.3e-4) within the same intron of GRM7, 22.3 Kb distal from rs13207753. More...	Negative
rs60035268	RNF212	G/A	GERP=1.03	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs150738695	ZNF732	A/G	GERP=0.977	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs17855876	DGKQ	G/A	GERP=1.96	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs2353552	POLN	C/A	GERP=20.11	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs35915664	DLD LAMB1	A/G	GERP=5.42	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs201649203	ZCWPW1 PILRA	G/C	GERP=3.36	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs482308	ZAN	G/A	GERP=4.08	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs10953303	ZAN	G/T	GERP=3.84	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs149869201	PPP1R9A	G/A	GERP=5.61	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs145244580	HEPACAM2	C/T	GERP=4.89	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs80095409	LAMB1	G/C	GERP=5.31	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs151304501	SAMD9L	G/A	GERP=4.59	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs111402688	CROT	C/G	GERP=5.62	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs76325149	ZAN	C/T	GERP=2.23	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs10279499	SAMD9	C/A	GERP=3.37	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs117986340	KMT2E SRPK2	G/T	GERP=6.03	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs141166290	SRRT ACHE UFSP1	T/G	GERP=3.25	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs314299	ZAN	C/T	GERP=2.64	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs7786505	STAG3 PVRIG	G/T	GERP=23.09	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs17847825	PIK3CG	C/A	GERP=5.51	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs11544193	GSPT1	C/A	GERP=4.57	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs45551636	PALB2	C/T	GERP=5.84	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs314300	ZAN	A/G	GERP=4.82	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs1134956	C7orf63 CFAP69	C/T	GERP=5.51	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs200931583	CLEC16A	G/A	GERP=5.58	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs55772253	UMOD	C/A	1000G freq=0.0176, EVS freq=0.0173	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs61740631	ACSM3 ACSM1	C/G	GERP=3.96	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs1800067	ERCC4	G/A	GERP=5.77	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs369110616	VWA3A	C/T	GERP=4.24	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs7190666	CCP110	G/A	GERP=4.02	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs143428829	ANKS4B	G/C	GERP=5.22	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs146045291	ACSM2A	G/A	GERP=1.48	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs75841596	IL27RA PALM3	C/T	9 in BPI, 11 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs73221529	EDA2R	A/G	10 in BPI, 10 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs199583997	ATAD3C	T/A	8 in BPI, 8 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs200746889	USP34 AHSA2	C/A	8 in BPI, 1 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs113270504	GPR124 ADGRA2	G/A	13 in BPI, 9 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs147445686	ADAM18	T/C	13 in BPI, 8 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs79473113	PPIEL	C/A	10 in BPI, 8 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs200275941	GUCA1A	A/G	12 in BPI, 7 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs147915749	KIAA1009 CEP162	A/G	7 in BPI, 4 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs60681475	ABCC11	C/T	7 in BPI, 4 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs76869876	MUC16	A/G	7 in BPI, 4 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs17790493	KIAA1009 CEP162	G/C	7 in BPI, 4 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs150461998	TMEM222	C/T	8 in BPI, 10 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs149637223	LOC100132713	G/a	8 in BPI, 10 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs201826382	MUC16	T/G	7 in BPI, 3 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs117255669	AQP8	G/A	7 in BPI, 1 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs138155176	CPED1	G/A	7 in BPI, 6 in Well, GERP=5.93	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs117701840	TPST2	C/T	7 in BPI, 6 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs34684319	IFT81	A/G	7 in BPI, 6 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs71579374	VCL	A/G	7 in BPI, 7 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs145684951	OR4X2	G/A	7 in BPI, 5 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs78247304	KCNH7	C/T	7 in BPI, 5 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs142890517	OR5AS1	G/T	7 in BPI, 5 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs149826123	OR3A1	A/T	7 in BPI, 6 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs4647931	FGFRL1	G/T	GERP=3.54	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs363075	HTT	G/A	GERP=4.84	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs41264743	HGFAC RGS12	G/T	GERP=2.89	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs16837598	EVC	C/T	GERP=4.92	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs376489341	DVL1 TAS1R3 GLTPD1	A/G	7 in BPI, 8 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs112896133	ZNF563	G/A	7 in BPI, 8 in Well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
rs11686212	TRAPPC12	A/G	GERP=5.07	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
rs28505970	SNTG2	C/A	GERP=4.58	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend

Haplotypes reported by this study for BD (count: 1)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
D4S3360 - D4S2936 - D4S412	4-5-5, 5-4-6, 5-3-2, 4-2-2		HLOD 3.96	The notable exception to this was the three-marker haplotype...... The notable exception to this was the three-marker haplotype on 4p16.3 (D4S3360-D4S2936-D4S412) covering the highest observed linkage peak (HLOD 3.96). Among the four contributing haplotypes (4-5-5, 5-4-6, 5-3-2, 4-2-2 at above listed microsatellite loci), a single haplotype, 5-3-2, was shared by 3 out of 4 linked nuclear families. More...	Positive

Other variants reported by this study for BD (count: 6)

Variant Name	Related Gene	Type	Allele Change	Statistical Values	Author Comments	Result Category
LOC285033 Chr2:96907615 A/C	LOC285033	missense point mutation	A/C	7 in BPI, 3 in well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
NCEH1 Chr3:172365793 C/T	NCEH1	missense point mutation	C/T	7 in BPI, 5 in well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
ZAN Chr7:100382373 C/T	ZAN	point mutation	C/T	GERP = -0.271	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
FAM38B Chr18:10759858 T/C	PIEZO2	point mutation	T/C	GERP = 5	Putative damaging exonic variants found in the five linkage ...... Putative damaging exonic variants found in the five linkage regions. More...	Trend
NOV Chr8:120430415 G/A	NOV	missense point mutation	G/A	8 in BPI, 5 in well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend
INSL6 Chr9:5164252 C/T	INSL6	missense point mutation	C/T	8 in BPI, 7 in well	Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More...	Trend

Genes reported by this study for BD (count: 63)

Gene	Statistical Values/Author Comments	Result Category
ANKS4B	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
ACSM2A	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
CLEC16A	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
UMOD	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
DNAH3	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
ITPRIPL2	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
VWA3A	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
CCP110	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
UFSP1	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
CFAP69	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
PVRIG	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
PIK3CG	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
ACSM1	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
ERCC4	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
GSPT1	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
PALB2	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
LAMA3	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
CIDEA	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
USP31	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
MKL2	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
TPST2	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
IFT81	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
VCL	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
TAS1R3	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
ZNF563	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
TRAPPC12	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
SNTG2	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
FGFRL1	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
MUC16	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
ABCC11	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
CEP162	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
OR4X2	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
KCNH7	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
OR5AS1	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
OR3A1	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
CPED1	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
SAMD9L	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
LAMB1	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
PPP1R9A	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
HEPACAM2	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
SAMD9	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
KMT2E	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
CROT	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
ZAN	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
HGFAC	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
HTT	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
POLN	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
EVC	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
ZNF732	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
DGKQ	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
PILRA	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
RNF212	Putative damaging exonic variant was found within this gene. Putative damaging exonic variant was found within this gene.	Trend
AQP8	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
TMEM222	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
LOC100132713	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
ATAD3C	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
AHSA2	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
PALM3	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
EDA2R	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
PPIEL	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
GUCA1A	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
ADGRA2	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend
ADAM18	Amish-specific putative damaging exonic missense variant was found within this gene. Amish-specific putative damaging exonic missense variant was found within this gene.	Trend

Regions reported by this study for BD (count: 5)

Region	Statistical Values	Author Comments	Result Category
4p16.3	HLOD=3.95	The analysis of subpedigrees yielded nominally significant l...... The analysis of subpedigrees yielded nominally significant linkage peaks on 4p16.3 (HLOD 3.95 at D4S3360, Narrow phenotype) observed within subpedigree 310/ 410. More...	Positive
2p25	expLOD=3.01	The analysis of subpedigrees yielded nominally significant l...... The analysis of subpedigrees yielded nominally significant linkage peaks on 2p25 (expLOD 3.01 at D2S2211, Narrow phenotype) observed within subpedigree 310/ 410. More...	Trend
18p11	expLOD=2.76	Within the full set of 49 nuclear families the highest linka...... Within the full set of 49 nuclear families the highest linkage we observed was on 18p11 (expLOD 2.76 at D18S453, BPI phenotype). More...	Trend
7q21	LOD=2.99	Within the full set of 49 nuclear families the highest linka...... Within the full set of 49 nuclear families the highest linkage we observed was on 7q21 (LOD 2.99 at D7S518, BPS phenotype). More...	Trend
16p13	expLOD=3.15	The analysis of subpedigrees yielded nominally significant l...... The analysis of subpedigrees yielded nominally significant linkage peaks on 16p13 (expLOD 3.15 at D16S3127) within subpedigree 310. More...	Trend