SNP Report

Basic Info

Name	rs3734381 dbSNP Ensembl
Location	chr6:118566140 - 118566140(1)
Variant Alleles	T/C
Ancestral Allele	T
Minor Allele	C
Minor Allele Frequence	0.436901
Functional Annotation	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: benign(ENST00000360290, ENST00000368488, ENST00000368491, ENST00000392500, ENST00000419517, ENST00000434604) SIFT Annotation: tolerated(ENST00000360290, ENST00000368488, ENST00000368491, ENST00000392500, ENST00000419517, ENST00000434604)
Consequence to Transcript	missense_variant(ENST00000360290, ENST00000368488, ENST00000368491, ENST00000392500, ENST00000419517, ENST00000434604); non_coding_transcript_exon_variant(ENST00000462101, ENST00000472713, ENST00000476150, ENST00000483035); non_coding_transcript_variant(ENST00000462101, ENST00000472713, ENST00000476150, ENST00000483035)
No. of Studies	1 (Positive: 1; Negative: 0; 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
Fan, J., 2010		A	P-value = 0.03 in STEP2 sample; P-value = 0.03 in STEP2 sample;	showed evidence of association in the replication sample showed evidence of association in the replication sample	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
PLN	phospholamban	6q22.1	Mapped by LD-proxy
CEP85L	centrosomal protein 85kDa-like	6q22.31	1(1/0/0)

SNPs in LD with rs3734381 (count: 44) View in gBrowse (chr6:118366306..118670439 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 44)

rs_ID	Functional Annotation	r²[population]
rs3890198		1.0[CEU]
rs7764280		1.0[CEU]; 0.809[TSI]
rs7769001	intron_variant; non_coding_transcript_variant	0.92[CEU]
rs12205899		0.854[CEU]
rs12660455		1.0[CEU]
rs7453914		1.0[CEU]; 0.809[TSI]
rs3798420	3_prime_UTR_variant	1.0[CEU]; 1.0[TSI]
rs2356492	downstream_gene_variant; intron_variant	1.0[CEU]
rs12214483	downstream_gene_variant; upstream_gene_variant	1.0[CEU]
rs2078079		0.854[CEU]
rs6902812	intron_variant; non_coding_transcript_variant	0.96[CEU]
rs13192336	intron_variant	1.0[CEU]
rs11153763	intron_variant; non_coding_transcript_variant	0.961[CEU]
rs6936178		1.0[CEU]
rs9320663	intron_variant; upstream_gene_variant	0.961[CEU]; 1.0[TSI]
rs13220480	intron_variant; non_coding_transcript_variant	0.961[CEU]; 0.978[TSI]
rs7757943		0.854[CEU]
rs6903459		0.854[CEU]
rs7764272		1.0[CEU]; 0.809[TSI]
rs2077162		1.0[CEU]
rs12199463	downstream_gene_variant; intron_variant	1.0[CEU]; 0.977[TSI]
rs11153732		0.854[CEU]; 0.853[TSI]
rs7767864		0.854[CEU]
rs11755121	downstream_gene_variant; intron_variant	1.0[CEU]
rs11153734		1.0[CEU]
rs2798321	intron_variant	0.961[CEU]; 0.978[TSI]
rs9320665	intron_variant; upstream_gene_variant	0.961[CEU]
rs6920640		1.0[CEU]
rs11968351	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs6925641	intron_variant; upstream_gene_variant	1.0[CEU]; 0.977[TSI]
rs11153748	downstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs3752581	intron_variant	1.0[CEU]
rs973944	intron_variant	0.961[CEU]; 1.0[TSI]
rs9320649		1.0[CEU]
rs12208253	intron_variant; non_coding_transcript_variant	0.961[CEU]
rs7740645	intron_variant; non_coding_transcript_variant	0.96[CEU]
rs10457338	3_prime_UTR_variant	1.0[CEU]
rs12206329	intron_variant	1.0[CEU]
rs10457330		1.0[CEU]; 1.0[TSI]
rs7751467	intron_variant; non_coding_transcript_variant	0.961[CEU]
rs2213856	intron_variant	1.0[CEU]
rs12194555	intron_variant; upstream_gene_variant	1.0[CEU]; 0.977[TSI]
rs3951042		1.0[CEU]
rs11153752	intron_variant	1.0[CEU]

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

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