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rs121907959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907959(A;A)
Make rs121907959(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72350574
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907959
ebirs121907959
HLIrs121907959
Exacrs121907959
Varsomers121907959
Maprs121907959
PheGenIrs121907959
hapmaprs121907959
1000 genomesrs121907959
hgdprs121907959
ensemblrs121907959
gopubmedrs121907959
geneviewrs121907959
scholarrs121907959
googlers121907959
pharmgkbrs121907959
gwascentralrs121907959
openSNPrs121907959
23andMers121907959
23andMe allrs121907959
SNP Nexus

SNPshotrs121907959
SNPdbers121907959
MSV3drs121907959
GWAS Ctlgrs121907959
Max Magnitude0
OMIM606869
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121907959(A,T;A,T)
Alt rs121907959(A,T;A,T)
Reference rs121907959(G;G)
Significance Pathogenic
Disease Tay-sachs disease
Variation info
Gene HEXA
CLNDBN Tay-sachs disease, juvenile
Reversed 1
HGVS NC_000015.9:g.72642915C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004108.2,