BDgene

SNP Report

Basic Info
Name rs75639014 dbSNP Ensembl
Location chr12:2052476 - 2052476(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.177117
Functional Annotation downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000541871); intron_variant(ENST00000543114); upstream_gene_variant(ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4)
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
Fiorentino A., 2014 C/T eurMLP=1.01 eurMLP=1.01 No significant association was observed. No significant association was observed. Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.3 20(17/3/0)
CACNA1C-IT2 CACNA1C intronic transcript 2 12p13.33 Mapped by Literature SNP

SNPs in LD with rs75639014 (count: 0) View in gBrowse (chr12:2052476..2052476 )

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

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