SNP Report

Basic Info

Name	rs1556314 dbSNP Ensembl
Location	chr21:44391460 - 44391460(1)
Variant Alleles	T/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.204473
Functional Annotation	intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: benign(ENST00000300482, ENST00000397928, ENST00000397932) SIFT Annotation: tolerated(ENST00000300482, ENST00000397928, ENST00000397932)
Consequence to Transcript	intron_variant(ENST00000300481); missense_variant(ENST00000300482, ENST00000397928, ENST00000397932); non_coding_transcript_exon_variant(ENST00000498430); non_coding_transcript_variant(ENST00000498430)
No. of Studies	3 (Positive: 2; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 3)

Reference	Risk Allele	Statistical Values	Author Comments	Result Category
McQuillin, A., 2006		P-value = 0.008, Pearson's X²=7.039 P-value = 0.008, Pearson's X²=7.039	showed allelic association with bipolar disorder showed allelic association with bipolar disorder	Positive
Xu, C.,2009	G	TDT: in BD families, X²=1.87, P-value = 0.172; in...... TDT: in BD families, X²=1.87, P-value = 0.172; in BD-I families, X²=5.58, P-value = 0.018; in BD-II families, X²=2.76, P-value = 0.097; in BD-I probands (AAO<=24 years), X²=5.04, P-value = 0.024; case-control study: in BD, OR (95% CI)=1.40(1.00-1.96), X²=3.92, P-value = 0.047, P-permutation value=0.056; in BD--I, OR (95% CI)=1.59(1.11-2.28), X²=6.47, P-value = 0.011, P-permutation value=0.015; in BD-II, OR (95% CI)=1.02(0.60-1.73), X²=0, P-value = 0.952, P-permutation value=0.096 More...	Significant association was observed in BD-I probands (AAO<=...... Significant association was observed in BD-I probands (AAO<=24 years)in TDT and in BD-I in the case-control study. More...	Positive
Roche, S., 2007		TDT allelic P-value = 0.646, X⁶=0.211 TDT allelic P-value = 0.646, X⁶=0.211	There was no evidence for association in the single-marker a...... There was no evidence for association in the single-marker association analyses More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
TRPM2	transient receptor potential cation channel, subfamily M, member 2	21q22.3	5(3/2/0)

SNPs in LD with rs1556314 (count: 14) View in gBrowse (chr21:44357261..44392820 )

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]
rs2838553	intron_variant	1.0[CEU]
rs4818714	intron_variant	1.0[CEU]; 0.866[TSI]
rs762426	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CEU]; 0.866[TSI]
rs11911332	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs4818713	intron_variant	0.927[CEU]
rs9977290	intron_variant	1.0[CEU]; 0.866[TSI]
rs11911248	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs13313851	intron_variant	1.0[CEU]; 0.866[TSI]
rs2838557	intron_variant; non_coding_transcript_variant	0.836[CEU]
rs4818915	intron_variant	1.0[CEU]
rs2838554	intron_variant; upstream_gene_variant	1.0[CEU]
rs11908957	intron_variant	1.0[CEU]; 0.866[TSI]
rs2226686	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs4169	intron_variant	1.0[CEU]; 0.862[TSI]

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

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