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rs147324677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier for a Tay-Sachs mutation
(G;G) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346234
GeneHEXA
is asnp
is mentioned by
dbSNPrs147324677
dbSNP (classic)rs147324677
ClinGenrs147324677
ebirs147324677
HLIrs147324677
Exacrs147324677
Gnomadrs147324677
Varsomers147324677
LitVarrs147324677
Maprs147324677
PheGenIrs147324677
Biobankrs147324677
1000 genomesrs147324677
hgdprs147324677
ensemblrs147324677
geneviewrs147324677
scholarrs147324677
googlers147324677
pharmgkbrs147324677
gwascentralrs147324677
openSNPrs147324677
23andMers147324677
23andMe allrs147324677
SNPshotrs147324677
SNPdbers147324677
MSV3drs147324677
GWAS Ctlgrs147324677
Max Magnitude8.8

rs147324677, also known as c.1421+1G>C, represents a variant in the HEXA gene on chromosome 15.

The rs147324677(G) allele, as represented in dbSNP orientation, is one of three most common mutations associated (when inherited recessively) with Tay-Sachs disease among Ashkenazi Jews. Be very aware of the possibility of ambiguous C/G flip errors given the plus/forward strand designation of this SNP.

23andMe name: i4000393


ClinVar
Risk Rs147324677(G;G)
Alt Rs147324677(G;G)
Reference Rs147324677(C;C)
Significance Pathogenic
Disease Tay-Sachs disease not provided
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease not provided
Reversed 0
HGVS NC_000015.9:g.72638575C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004094.3, RCV000255737.1,