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rs121907952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907952(A;A)
Make rs121907952(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345528
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907952
ebirs121907952
HLIrs121907952
Exacrs121907952
Varsomers121907952
Maprs121907952
PheGenIrs121907952
hapmaprs121907952
1000 genomesrs121907952
hgdprs121907952
ensemblrs121907952
gopubmedrs121907952
geneviewrs121907952
scholarrs121907952
googlers121907952
pharmgkbrs121907952
gwascentralrs121907952
openSNPrs121907952
23andMers121907952
23andMe allrs121907952
SNP Nexus

SNPshotrs121907952
SNPdbers121907952
MSV3drs121907952
GWAS Ctlgrs121907952
Max Magnitude0
OMIM606869
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121907952(A;A)
Alt rs121907952(A;A)
Reference rs121907952(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72637869C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004096.2,