SNP Report

Basic Info

Name	rs942519 dbSNP Ensembl
Location	chr9:114406753 - 114406753(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.481629
Functional Annotation	missense_variant. Polyphen Annotation: benign(ENST00000265134, ENST00000362057, ENST00000374059) SIFT Annotation: tolerated(ENST00000265134, ENST00000362057, ENST00000374059)
Consequence to Transcript	missense_variant(ENST00000265134, ENST00000362057, ENST00000374059)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Takata, A.,2011(a)	A/G		Fisher's exact test: allele P-value = 0.8747, genotype P-val...... Fisher's exact test: allele P-value = 0.8747, genotype P-value = 0.8363 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)
DFNB31	deafness, autosomal recessive 31	9q32	3(2/1/0)

SNPs in LD with rs942519 (count: 14) View in gBrowse (chr9:114396217..114414026 )

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]
rs2236388	intron_variant	0.837[JPT]
rs10733609	intron_variant	0.892[CHB]; 0.945[JPT]
rs10817600	downstream_gene_variant; upstream_gene_variant	0.86[CHB]; 0.888[JPT]
rs10982200	intron_variant	0.907[CHB]; 0.945[JPT]
rs10759697	intron_variant	0.909[CHB]; 0.866[CHD]; 0.945[JPT]
rs1535966	intron_variant	0.837[JPT]
rs10759693	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.976[CHD]; 1.0[JPT]
rs4979380	intron_variant	0.909[CHB]; 0.866[CHD]; 0.945[JPT]
rs717916	intron_variant	1.0[CHB]; 0.945[JPT]
rs6478077	downstream_gene_variant; upstream_gene_variant	0.837[JPT]
rs10759692	downstream_gene_variant; upstream_gene_variant	0.909[CHB]; 0.865[CHD]; 0.945[JPT]
rs10759695	intron_variant	0.907[CHB]; 0.888[JPT]
rs10119353	intron_variant	1.0[CHB]; 1.0[JPT]
rs4979377	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.86[CHB]; 0.888[JPT]

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

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