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)