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rs267606862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606862(A;A)
Make rs267606862(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72346681
GeneHEXA
is asnp
is mentioned by
dbSNPrs267606862
ebirs267606862
HLIrs267606862
Exacrs267606862
Varsomers267606862
Maprs267606862
PheGenIrs267606862
hapmaprs267606862
1000 genomesrs267606862
hgdprs267606862
ensemblrs267606862
gopubmedrs267606862
geneviewrs267606862
scholarrs267606862
googlers267606862
pharmgkbrs267606862
gwascentralrs267606862
openSNPrs267606862
23andMers267606862
23andMe allrs267606862
SNP Nexus

SNPshotrs267606862
SNPdbers267606862
MSV3drs267606862
GWAS Ctlgrs267606862
Max Magnitude0
ClinVar
Risk rs267606862(A;A)
Alt rs267606862(A;A)
Reference rs267606862(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72639022C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004142.2,