SNP Report

Basic Info

Name	rs9685931 dbSNP Ensembl
Location	chr4:8587296 - 8587296(1)
Variant Alleles	G/A/C
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.116813
Functional Annotation	intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: benign(ENST00000382487) SIFT Annotation: tolerated - low confidence(ENST00000382487)
Consequence to Transcript	intron_variant(ENST00000514302); missense_variant(ENST00000382487); NMD_transcript_variant(ENST00000514302); non_coding_transcript_exon_variant(ENST00000504255, ENST00000509216); non_coding_transcript_variant(ENST00000504255, ENST00000509216)
No. of Studies	2 (Positive: 0; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Yosifova, A.,2009	A/G		Allelic association: P-value = 0.094 Allelic association: P-value = 0.094	No significant association was observed No significant association was observed	Negative
Underwood, S. L., 2006	A/G		no P-value given in the text no P-value given in the text	No single-marker association was detected with any other SNP...... No single-marker association was detected with any other SNP, in the males or in the individuals with BPAD. More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
GPR78	G protein-coupled receptor 78	4p16.1	2(2/0/0)

SNPs in LD with rs9685931 (count: 5) View in gBrowse (chr4:8586491..8587709 )

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]
rs9799721	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.814[CEU]
rs4696852	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.814[CEU]
rs9799717	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.814[CEU]
rs9799809	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.814[CEU]
rs4391014	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]

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

Reference	Statistical Result	Description	Result Category
Underwood, S. L., 2006	no P-value given in the text	No single-marker association was detected.	Negative

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