SNP Report

Basic Info

Name	rs10994336 dbSNP Ensembl
Location	chr10:60420054 - 60420054(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.123203
Functional Annotation	intron_variant; NMD_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000373827, ENST00000503366, ENST00000622427); NMD_transcript_variant(ENST00000622427)
No. of Studies	12 (Positive: 7; Negative: 5; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 12)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Schulze, T. G.,2009	C/T		single marker case-control association: in German sample, P-...... single marker case-control association: in German sample, P-value(OR)=0.112 (1.39), in NIMH 1-4 sample, P-value(OR)=0.241 (1.33), in NIMH 5 sample, P-value(OR)=0.241 (1.33) More...	Significant association was observed Significant association was observed	Positive
Dedman, A.,2012	T/C		Association analysis: for UCL1 sample, P-value = 0.013, OR=1...... Association analysis: for UCL1 sample, P-value = 0.013, OR=1.63; for UCL2 sample, P-value = 0.93, OR=1.02; for UCL1+UCL2 sample, P-value = 0.048, OR=1.28 More...	Significant association was observed in BD. Significant association was observed in BD.	Positive
Lim C.H., 2014	C/T	T	All ethnicities: OR=1.01, 95%CI =0.76-1.33, P-value=0.976; M...... All ethnicities: OR=1.01, 95%CI =0.76-1.33, P-value=0.976; Malay: OR=0.49, 95%CI =0.30-0.81, P-value=0.006; Chinese: OR=1.19, 95%CI =0.76-1.86, P-value=0.439; Indian: OR=1.81, 95%CI =1.01-3.26, P-value=0.047 More...	rs10994336 was significantly different between BPD and SZ pa...... rs10994336 was significantly different between BPD and SZ patients and controls of Malay ethnicity(P= 0.001 and 0.012, for BPD and SZ, respectively). More...	Positive
Ferreira, M. A.,2008		T	Imputed P value=9.1E-09, OR=1.45 in the combined analysis of...... Imputed P value=9.1E-09, OR=1.45 in the combined analysis of WTCCC, STEP-UCL and ED-DUB-STEP2 datasets. Imputed P value=0.0006 in the WTCCC. Imputed P value=0.0004 in the STEP-UCL. Imputed P value=0.0002 in the ED-DUB-STEP2 dataset. More...	identified a region of strong association (rs10994336) in AN...... identified a region of strong association (rs10994336) in ANK3 (ankyrin G) More...	Positive
Gella, A.,2011	C/T		Genotype association: CC P-value = 0.182, CT P-value = 0.13,...... Genotype association: CC P-value = 0.182, CT P-value = 0.13, TT P-value = 0.415 for BD. More...	No significant association was observed. No significant association was observed.	Negative
Liu, Y.,2011			Meta analysis: P-value = 9.1E-09 Meta analysis: P-value = 9.1E-09	Significant association was found . Significant association was found .	Positive
Kondo, K.,2013	T/C		P-value = 0.16,OR= 1.07 P-value = 0.16,OR= 1.07	No significant association was observed. No significant association was observed.	Negative
Gonzalez SD, 2013			FBAT P-value=0.053, Bonferroni-adjusted P-value=0.276, Z-sco...... FBAT P-value=0.053, Bonferroni-adjusted P-value=0.276, Z-score=1.939 More...	No significant association was observed. No significant association was observed.	Negative
Tesli, M.,2011	T/C		SCOPE sample: MAF=0.068, Cochrane-Mantel-Haenszel test P-val...... SCOPE sample: MAF=0.068, Cochrane-Mantel-Haenszel test P-value = 0.3, Bonferroni corrected P-value = 0.9, OR (95%CI)=1.13(0.90-1.41); Icelandic sample: MAF(affected)=0.071, MAF(unaffected)=0.05, allelic P-value = 0.012, Bonferroni corrected P-value = 0.036, OR (95%CI)=1.45(1.09-1.90) More...	Significant association was found. Significant association was found.	Positive
Muhleisen, T. W., 2014	T/C	T	MooDS: P-value=0.171, OR=1.11; PGC: P-value=4.01E-9, OR=1.35...... MooDS: P-value=0.171, OR=1.11; PGC: P-value=4.01E-9, OR=1.35; MooDS-PGC: P-value=1.76E-8, adjusted P-value=2.34E-8, OR=1.27 More...	Eighteen GWAS SNPs showing genome-wide evidence for associat...... Eighteen GWAS SNPs showing genome-wide evidence for association with BD in the combined MooDS and PGC samples. More...	Positive
Lett, T. A.,2011	T/C	T	FBAT: P-value = 0.329 FBAT: P-value = 0.329	No significant association was observed in BD. No significant association was observed in BD.	Negative
Takata, A.,2011(b)	C/T	T	chi-square test: allele P-value = 0.489, OR(95%CI)=0.92(0.73...... chi-square test: allele P-value = 0.489, OR(95%CI)=0.92(0.73-1.16) for Korean sample; allele P-value = 0.918, OR(95%CI)=1.01(0.88-1.16) for Japanese sample; allele P-value = 0.214, OR(95%CI)=1.1(0.94-1.29) for Taiwan sample More...	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
ANK3	ankyrin 3, node of Ranvier (ankyrin G)	10q21	17(13/3/1)

SNPs in LD with rs10994336 (count: 0) View in gBrowse (chr10:60420054..60420054 )

Overlap with SZ from cross-disorder studies (count: 4)

Reference	Statistical Result	Description	Result Category
Gella, A.,2011	Genotype association:CC P-value = 0.617, CT P-value = 0.689, TT P-value = 0.62 for SZ.	No significant association was observed.	Negative
Lim C.H., 2014	All ethnicities: OR=0.98, 95%CI =0.78-1.23, P-value=0.840; Malay: OR=0.62, 95%CI =0.40-0.95, P-value=0.029; Chinese: OR=1.05, 95%CI =0.76-1.46, P-value=0.776; Indian: OR=1.45, 95%CI =0.91-2.32, P-value=0.116	rs10994336 was significantly different between BPD and SZ patients and controls of Malay ethnicity(P= 0.001 and 0.012, for BPD and SZ, respectively).	Positive
Kondo, K.,2013	P-value = 0.017,OR= 1.16	Significant association was observed.	Positive
Tesli, M.,2011	SCOPE sample:MAF=0.068, Cochrane-Mantel-Haenszel test P-value = 0.64, Bonferroni corrected P-value = 1, OR (95%CI)=1.05(0.86-1.29);Icelandic sample:MAF(affected)=0.055, MAF(unaffected)=0.05, allelic P-value = 0.56, Bonferroni corrected P-value = 1, OR (95%CI)=1.08(0.83-1.39)	No significant association was observed.	Negative

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Liu, Y.,2011	Meta analysis:P-value = 5.0E-07	Suggestive association was found.	Trend