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rs770932296

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770932296(C;T)
Make rs770932296(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position72349266
GeneHEXA
is asnp
is mentioned by
dbSNPrs770932296
ebirs770932296
HLIrs770932296
Exacrs770932296
Varsomers770932296
Maprs770932296
PheGenIrs770932296
hapmaprs770932296
1000 genomesrs770932296
hgdprs770932296
ensemblrs770932296
gopubmedrs770932296
geneviewrs770932296
scholarrs770932296
googlers770932296
pharmgkbrs770932296
gwascentralrs770932296
openSNPrs770932296
23andMers770932296
23andMe allrs770932296
SNP Nexus

SNPshotrs770932296
SNPdbers770932296
MSV3drs770932296
GWAS Ctlgrs770932296
Max Magnitude0
ClinVar
Risk rs770932296(T;T)
Alt rs770932296(T;T)
Reference rs770932296(C;C)
Significance Pathogenic
Disease Gm2-gangliosidosis Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, chronic Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72641607C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004146.2, RCV000191092.1,