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rs387906311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906311(A;A)
Make rs387906311(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72351132
GeneHEXA
is asnp
is mentioned by
dbSNPrs387906311
ebirs387906311
HLIrs387906311
Exacrs387906311
Varsomers387906311
Maprs387906311
PheGenIrs387906311
hapmaprs387906311
1000 genomesrs387906311
hgdprs387906311
ensemblrs387906311
gopubmedrs387906311
geneviewrs387906311
scholarrs387906311
googlers387906311
pharmgkbrs387906311
gwascentralrs387906311
openSNPrs387906311
23andMers387906311
23andMe allrs387906311
SNP Nexus

SNPshotrs387906311
SNPdbers387906311
MSV3drs387906311
GWAS Ctlgrs387906311
Max Magnitude0
ClinVar
Risk rs387906311(A;A)
Alt rs387906311(A;A)
Reference rs387906311(G;G)
Significance Pathogenic
Disease Tay-sachs disease
Variation info
Gene HEXA
CLNDBN Tay-sachs disease, juvenile/adult
Reversed 1
HGVS NC_000015.9:g.72643473C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004134.2,