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rs748190164

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748190164(C;G)
Make rs748190164(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position72356531
GeneHEXA
is asnp
is mentioned by
dbSNPrs748190164
ebirs748190164
HLIrs748190164
Exacrs748190164
Varsomers748190164
Maprs748190164
PheGenIrs748190164
hapmaprs748190164
1000 genomesrs748190164
hgdprs748190164
ensemblrs748190164
gopubmedrs748190164
geneviewrs748190164
scholarrs748190164
googlers748190164
pharmgkbrs748190164
gwascentralrs748190164
openSNPrs748190164
23andMers748190164
23andMe allrs748190164
SNP Nexus

SNPshotrs748190164
SNPdbers748190164
MSV3drs748190164
GWAS Ctlgrs748190164
Max Magnitude0
ClinVar
Risk rs748190164(G;G)
Alt rs748190164(G;G)
Reference rs748190164(C;C)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72648872C>T
CLNSRC
CLNACC RCV000203235.1,