SNP Report

Basic Info

Name	rs324420 dbSNP Ensembl
Location	chr1:46405089 - 46405089(1)
Variant Alleles	C/A
Ancestral Allele	C
Minor Allele	A
Minor Allele Frequence	0.261581
Functional Annotation	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: probably damaging(ENST00000243167) SIFT Annotation: tolerated(ENST00000243167)
Consequence to Transcript	missense_variant(ENST00000243167); non_coding_transcript_exon_variant(ENST00000468718, ENST00000493735); non_coding_transcript_variant(ENST00000468718, ENST00000493735); upstream_gene_variant(ENST00000484697, ENST00000489366, ENST00000493636)
No. of Studies	2 (Positive: 0; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Monteleone, P.,2010	C/A		Pearson's X² test: Genotype frequencies with BD p...... Pearson's X² test: Genotype frequencies with BD patients ( X²=3.242; df = 1, P-value = 0.07), type I ( X²=3.034; df = 1, P-value = 0.08) and type II BDpatients ( X²=1.505; df = 1, P-value = 0.2). More...	No significant association was observed in BD. No significant association was observed in BD.	Negative
Pisanu, C., 2013	A/C		logistic regression, P-value=0.218, OR=0.83 logistic regression, P-value=0.218, OR=0.83	None of the SNPs of FAAH showed nominal association with BD ...... None of the SNPs of FAAH showed nominal association with BD or lithium response. More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
FAAH	fatty acid amide hydrolase	1p35-p34	2(0/2/0)

SNPs in LD with rs324420 (count: 2) View in gBrowse (chr1:46405089..46429969 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs324418		downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.851[CEU]; 0.957[TSI]
rs1571138		upstream_gene_variant	1.0[CEU]; 0.955[TSI]

Overlap with SZ from cross-disorder studies (count: 0)

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

Reference	Statistical Result	Description	Result Category
Monteleone, P.,2010	Pearson's X² test:Genotype frequencies with MD patients ( X²=3.748;df = 1, P-value = 0.05)	No significant association was observed.	Negative