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rs1057516908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516908(C;C)
Make rs1057516908(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72349260
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057516908
dbSNP (old)rs1057516908
ClinGenrs1057516908
ebirs1057516908
HLIrs1057516908
Exacrs1057516908
Gnomadrs1057516908
Varsomers1057516908
Maprs1057516908
PheGenIrs1057516908
Biobankrs1057516908
1000 genomesrs1057516908
hgdprs1057516908
ensemblrs1057516908
gopubmedrs1057516908
geneviewrs1057516908
scholarrs1057516908
googlers1057516908
pharmgkbrs1057516908
gwascentralrs1057516908
openSNPrs1057516908
23andMers1057516908
23andMe allrs1057516908
SNPshotrs1057516908
SNPdbers1057516908
MSV3drs1057516908
GWAS Ctlgrs1057516908
Max Magnitude0
ClinVar
Risk rs1057516908(C;C)
Alt rs1057516908(C;C)
Reference Rs1057516908(G;G)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72641601C>G
CLNSRC
CLNACC RCV000411061.1,