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rs71180793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5 Left ventricular noncompaction possible (likely?)
(C;C) 0 common/normal


Make rs71180793(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position228371745
GeneOBSCN
is asnp
is mentioned by
dbSNPrs71180793
ebirs71180793
HLIrs71180793
Exacrs71180793
Varsomers71180793
Maprs71180793
PheGenIrs71180793
hapmaprs71180793
1000 genomesrs71180793
hgdprs71180793
ensemblrs71180793
gopubmedrs71180793
geneviewrs71180793
scholarrs71180793
googlers71180793
pharmgkbrs71180793
gwascentralrs71180793
openSNPrs71180793
23andMers71180793
23andMe allrs71180793
SNP Nexus

SNPshotrs71180793
SNPdbers71180793
MSV3drs71180793
GWAS Ctlgrs71180793
Max Magnitude5

The rare minor allele of this OBSCN SNP is reported in 10.1016/j.jacc.2016.08.052 to be a variant leading to left ventricular noncompaction, acting in a dominant manner (i.e. in heterozygotes).

[PMID 27120077] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.