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rs200926928

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200926928(C;C)
Make rs200926928(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position72349076
GeneHEXA
is asnp
is mentioned by
dbSNPrs200926928
ebirs200926928
HLIrs200926928
Exacrs200926928
Varsomers200926928
Maprs200926928
PheGenIrs200926928
hapmaprs200926928
1000 genomesrs200926928
hgdprs200926928
ensemblrs200926928
gopubmedrs200926928
geneviewrs200926928
scholarrs200926928
googlers200926928
pharmgkbrs200926928
gwascentralrs200926928
openSNPrs200926928
23andMers200926928
23andMe allrs200926928
SNP Nexus

SNPshotrs200926928
SNPdbers200926928
MSV3drs200926928
GWAS Ctlgrs200926928
Max Magnitude0
ClinVar
Risk rs200926928(C;C)
Alt rs200926928(C;C)
Reference rs200926928(T;T)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72641417T>C
CLNSRC
CLNACC RCV000169296.1,