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rs121907971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907971(C;C)
Make rs121907971(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72350551
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907971
ebirs121907971
HLIrs121907971
Exacrs121907971
Varsomers121907971
Maprs121907971
PheGenIrs121907971
hapmaprs121907971
1000 genomesrs121907971
hgdprs121907971
ensemblrs121907971
gopubmedrs121907971
geneviewrs121907971
scholarrs121907971
googlers121907971
pharmgkbrs121907971
gwascentralrs121907971
openSNPrs121907971
23andMers121907971
23andMe allrs121907971
SNP Nexus

SNPshotrs121907971
SNPdbers121907971
MSV3drs121907971
GWAS Ctlgrs121907971
Max Magnitude0
OMIM606869
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121907971(C;C)
Alt rs121907971(C;C)
Reference rs121907971(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease, B1 variant
Reversed 1
HGVS NC_000015.9:g.72642892C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004130.2,