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rs121907978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907978(A;A)
Make rs121907978(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346296
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907978
ebirs121907978
HLIrs121907978
Exacrs121907978
Varsomers121907978
Maprs121907978
PheGenIrs121907978
hapmaprs121907978
1000 genomesrs121907978
hgdprs121907978
ensemblrs121907978
gopubmedrs121907978
geneviewrs121907978
scholarrs121907978
googlers121907978
pharmgkbrs121907978
gwascentralrs121907978
openSNPrs121907978
23andMers121907978
23andMe allrs121907978
SNP Nexus

SNPshotrs121907978
SNPdbers121907978
MSV3drs121907978
GWAS Ctlgrs121907978
Max Magnitude0
OMIM606869
Desc
Variant0048
Relatedalso
ClinVar
Risk rs121907978(A;A)
Alt rs121907978(A;A)
Reference rs121907978(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72638637C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004140.2,