SNP Report

Basic Info
Name rs6971 dbSNP Ensembl
Location chr22:43162920 - 43162920(1)
Variant Alleles A/G
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.171725
Functional Annotation downstream_gene_variant; missense_variant.
Polyphen Annotation: benign(ENST00000329563, ENST00000337554, ENST00000396265, ENST00000583777)
SIFT Annotation: tolerated(ENST00000329563, ENST00000337554, ENST00000396265, ENST00000583777)
Consequence to Transcript downstream_gene_variant(ENST00000216129, ENST00000428336, ENST00000472378, ENST00000484711, ENST00000494035); missense_variant(ENST00000329563, ENST00000337554, ENST00000396265, ENST00000583777)
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
Colasanti, A.,2013 allelic association : OR = 1.11, p = 0.007 for WTCCC dataset...... allelic association : OR = 1.11, p = 0.007 for WTCCC dataset; OR = 1.10,p = 0.011 for PGC dataset More... We report a nominal association between this TSPO polymorphi...... We report a nominal association between this TSPO polymorphism and the diagnosis of Bipolar Disorder. More... Positive

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
TTLL12 tubulin tyrosine ligase-like family member 12 22q13.31 Mapped by Literature SNP
TSPO translocator protein (18kDa) 22q13.3 3(1/2/0)

SNPs in LD with rs6971 (count: 0) View in gBrowse (chr22:43162920..43162920 )

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

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