SNP Report

Basic Info

Name	rs4279178 dbSNP Ensembl
Location	chr4:47066563 - 47066563(1)
Variant Alleles	G/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.485823
Functional Annotation	intron_variant; NMD_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000295454, ENST00000510909, ENST00000513567); NMD_transcript_variant(ENST00000510909)
No. of Studies	2 (Positive: 1; Negative: 0; Trend: 1)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Hamshere, M. L.,2009			lambda-corrected Cochran-Armitage trend test: P-value = 2.49...... lambda-corrected Cochran-Armitage trend test: P-value = 2.49E-06 More...	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
Huang, J.,2010	A/G		Omnibus GWAS Test: P-value = 0.0000000393, best-fit model is...... Omnibus GWAS Test: P-value = 0.0000000393, best-fit model is Bipolar II specific More...	Significant association was found in BD-II. Significant association was found in BD-II.	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
GABRB1	gamma-aminobutyric acid (GABA) A receptor, beta 1	4p12	3(2/0/1)
ADM	adrenomedullin	11p15.4	1(1/0/0)

SNPs in LD with rs4279178 (count: 3) View in gBrowse (chr4:47066563..47083300 )

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

rs_ID	Functional Annotation	r²[population]
rs4600895	intron_variant; NMD_transcript_variant	0.922[CEU]
rs6824550	intron_variant; NMD_transcript_variant	0.922[CEU]; 0.885[TSI]
rs4645195	intron_variant; NMD_transcript_variant	0.922[CEU]; 0.885[TSI]

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

Reference	Statistical Result	Description	Result Category
Huang, J.,2010	Omnibus GWAS Test:P-value > 5E-05	No significant association was observed.	Negative

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

Reference	Statistical Result	Description	Result Category
Huang, J.,2010	Omnibus GWAS Test:P-value > 5E-05	No significant association was observed.	Negative