SNP Report

Basic Info

Name	rs3184504 dbSNP Ensembl
Location	chr12:111446804 - 111446804(1)
Variant Alleles	T/C
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.147364
Functional Annotation	downstream_gene_variant; missense_variant. Polyphen Annotation: benign(ENST00000341259, ENST00000538307, LRG_621t1, LRG_621t2) SIFT Annotation: tolerated(ENST00000341259, ENST00000538307, LRG_621t1, LRG_621t2)
Consequence to Transcript	downstream_gene_variant(ENST00000550925); missense_variant(ENST00000341259, ENST00000538307, LRG_621t1, LRG_621t2)
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
Glaser, B.,2005(b)	T/C		For Sample I+II, allelic association: X²=3.15, P-...... For Sample I+II, allelic association: X²=3.15, P-value = 0.08, OR(95%CI)=1.2(1.0-1.5); genotypic association: X²=4.23, P-value = 0.12 More...	No significant association was observed. No significant association was observed.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
SH2B3	SH2B adaptor protein 3	12q24.12	Mapped by Literature SNP

SNPs in LD with rs3184504 (count: 3) View in gBrowse (chr12:111446804..111569952 )

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]
rs10774625	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.96[CEU]; 0.913[TSI]
rs653178	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 0.977[TSI]
rs4766578	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.96[CEU]

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

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