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rs797044432

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044432(C;C)
Make rs797044432(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position72356524
GeneHEXA
is asnp
is mentioned by
dbSNPrs797044432
ebirs797044432
HLIrs797044432
Exacrs797044432
Varsomers797044432
Maprs797044432
PheGenIrs797044432
hapmaprs797044432
1000 genomesrs797044432
hgdprs797044432
ensemblrs797044432
gopubmedrs797044432
geneviewrs797044432
scholarrs797044432
googlers797044432
pharmgkbrs797044432
gwascentralrs797044432
openSNPrs797044432
23andMers797044432
23andMe allrs797044432
SNP Nexus

SNPshotrs797044432
SNPdbers797044432
MSV3drs797044432
GWAS Ctlgrs797044432
Max Magnitude0
ClinVar
Risk rs797044432(C;C)
Alt rs797044432(C;C)
Reference rs797044432(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72648865C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004097.2,