SNP Report

Basic Info

Name	rs7680321 dbSNP Ensembl
Location	chr4:47143090 - 47143090(1)
Variant Alleles	C/T
Ancestral Allele	T
Minor Allele	C
Minor Allele Frequence	0.116813
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?	NO
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Craddock, N., 2010			OR= 1.80 (1.37-2.37), X² = 21.34, 1 d.f., P = 3.8...... OR= 1.80 (1.37-2.37), X² = 21.34, 1 d.f., P = 3.8E-6 in the subset of 279 bipolar cases that met Research Diagnostic Criteria (RDC SABP). More...	The index SNP, rs7680321 showed the strongest evidence for a...... The index SNP, rs7680321 showed the strongest evidence for association in the subset of SABP samples and substantially less strong in the subset of cases meeting criteria for DSMIV SABP or the larger subset of cases with predominantly moodincongruent psychotic features. More...	Positive
Hamshere, M. L.,2009			lambda-corrected Cochran-Armitage trend test: P-value = 7.28...... lambda-corrected Cochran-Armitage trend test: P-value = 7.28E-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

SNP related genes (count: 1)

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)

SNPs in LD with rs7680321 (count: 9) View in gBrowse (chr4:47118772..47144082 )

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]
rs7666212	intron_variant; NMD_transcript_variant	1.0[CEU]
rs1442099	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs13105212	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs4501194	intron_variant; NMD_transcript_variant	1.0[CEU]
rs7680746	intron_variant; NMD_transcript_variant	1.0[CEU]
rs1442101	intron_variant; NMD_transcript_variant	1.0[CEU]; 0.928[TSI]
rs6447534	intron_variant; NMD_transcript_variant	1.0[CEU]; 0.917[TSI]
rs3906823	intron_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]
rs9291304	intron_variant; NMD_transcript_variant	1.0[CEU]

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

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