Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 8.8 Tay-Sachs disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome15
Position72353130
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907972
dbSNP (classic)rs121907972
ClinGenrs121907972
ebirs121907972
HLIrs121907972
Exacrs121907972
Gnomadrs121907972
Varsomers121907972
LitVarrs121907972
Maprs121907972
PheGenIrs121907972
Biobankrs121907972
1000 genomesrs121907972
hgdprs121907972
ensemblrs121907972
geneviewrs121907972
scholarrs121907972
googlers121907972
pharmgkbrs121907972
gwascentralrs121907972
openSNPrs121907972
23andMers121907972
SNPshotrs121907972
SNPdbers121907972
MSV3drs121907972
GWAS Ctlgrs121907972
Max Magnitude8.8

aka c.508C>T (p.Arg170Trp or R170W)

23andMe name: i5000092

OMIM606869
Desc
Variant0039
Relatedalso
ClinVar
Risk Rs121907972(T;T)
Alt Rs121907972(T;T)
Reference Rs121907972(C;C)
Significance Other
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72645471G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004131.3,