Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907975(G;G)
Make rs121907975(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position72355591
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907975
ebirs121907975
HLIrs121907975
Exacrs121907975
Varsomers121907975
Maprs121907975
PheGenIrs121907975
hapmaprs121907975
1000 genomesrs121907975
hgdprs121907975
ensemblrs121907975
gopubmedrs121907975
geneviewrs121907975
scholarrs121907975
googlers121907975
pharmgkbrs121907975
gwascentralrs121907975
openSNPrs121907975
23andMers121907975
23andMe allrs121907975
SNP Nexus

SNPshotrs121907975
SNPdbers121907975
MSV3drs121907975
GWAS Ctlgrs121907975
Max Magnitude0
OMIM606869
Desc
Variant0044
Relatedalso
ClinVar
Risk rs121907975(G;G)
Alt rs121907975(G;G)
Reference rs121907975(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72647932A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004136.2,