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rs121907976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907976(A;G)
Make rs121907976(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351194
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907976
ebirs121907976
HLIrs121907976
Exacrs121907976
Varsomers121907976
Maprs121907976
PheGenIrs121907976
hapmaprs121907976
1000 genomesrs121907976
hgdprs121907976
ensemblrs121907976
gopubmedrs121907976
geneviewrs121907976
scholarrs121907976
googlers121907976
pharmgkbrs121907976
gwascentralrs121907976
openSNPrs121907976
23andMers121907976
23andMe allrs121907976
SNP Nexus

SNPshotrs121907976
SNPdbers121907976
MSV3drs121907976
GWAS Ctlgrs121907976
Max Magnitude0
OMIM606869
Desc
Variant0045
Relatedalso
ClinVar
Risk rs121907976(G;G)
Alt rs121907976(G;G)
Reference rs121907976(A;A)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72643535T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004137.2,