rs1127317
This variant is located in the ADAR gene.
▶ClinVar annotation
Symmetrical dyschromatosis of extremities; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶No evidence for association between 19 cholinergic genes and bipolar disorderAssociationN=557Jiajun Shi et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This association study screened 93 SNPs in 19 cholinergic genes (CHAT, CHRM1-5, CHRNA1-7, CHRNA9-10, CHRNB1-4) in two bipolar disorder (BD) pedigree series: NIMH Genetics Initiative (474 samples, 152 families) and Clinical Neurogenetics (83 samples, 22 families). Sib-TDT analysis showed nominally significant association for four SNPs (CHRNA2 rs7017417 P=0.024, CHRNA5 rs514743 P=0.031, CHRNB1 rs2302762 P=0.049, CHRNB4 rs1948 P=0.031), but none reached gene-wide significance after multiple testing correction. The authors conclude that these 19 cholinergic genes are unlikely to play a major role in BD predisposition in these pedigrees.
About ADAR
This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
View all ADAR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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