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rs121907958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907958(C;C)
Make rs121907958(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346597
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907958
ebirs121907958
HLIrs121907958
Exacrs121907958
Varsomers121907958
Maprs121907958
PheGenIrs121907958
hapmaprs121907958
1000 genomesrs121907958
hgdprs121907958
ensemblrs121907958
gopubmedrs121907958
geneviewrs121907958
scholarrs121907958
googlers121907958
pharmgkbrs121907958
gwascentralrs121907958
openSNPrs121907958
23andMers121907958
23andMe allrs121907958
SNP Nexus

SNPshotrs121907958
SNPdbers121907958
MSV3drs121907958
GWAS Ctlgrs121907958
Max Magnitude0
OMIM606869
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121907958(C;C)
Alt rs121907958(C;C)
Reference rs121907958(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72638938C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004107.2,