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rs387906310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906310(C;C)
Make rs387906310(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351231
GeneHEXA
is asnp
is mentioned by
dbSNPrs387906310
ebirs387906310
HLIrs387906310
Exacrs387906310
Varsomers387906310
Maprs387906310
PheGenIrs387906310
hapmaprs387906310
1000 genomesrs387906310
hgdprs387906310
ensemblrs387906310
gopubmedrs387906310
geneviewrs387906310
scholarrs387906310
googlers387906310
pharmgkbrs387906310
gwascentralrs387906310
openSNPrs387906310
23andMers387906310
23andMe allrs387906310
SNP Nexus

SNPshotrs387906310
SNPdbers387906310
MSV3drs387906310
GWAS Ctlgrs387906310
Max Magnitude0
ClinVar
Risk rs387906310(C;C)
Alt rs387906310(C;C)
Reference rs387906310(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease, B1 variant
Reversed 1
HGVS NC_000015.9:g.72643572C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004129.2,