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rs1057521137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72350575
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057521137
dbSNP (old)rs1057521137
ClinGenrs1057521137
ebirs1057521137
HLIrs1057521137
Exacrs1057521137
Gnomadrs1057521137
Varsomers1057521137
Maprs1057521137
PheGenIrs1057521137
Biobankrs1057521137
1000 genomesrs1057521137
hgdprs1057521137
ensemblrs1057521137
gopubmedrs1057521137
geneviewrs1057521137
scholarrs1057521137
googlers1057521137
pharmgkbrs1057521137
gwascentralrs1057521137
openSNPrs1057521137
23andMers1057521137
23andMe allrs1057521137
SNPshotrs1057521137
SNPdbers1057521137
MSV3drs1057521137
GWAS Ctlgrs1057521137
Max Magnitude8.8
ClinVar
Risk Rs1057521137(A;A)
Alt Rs1057521137(A;A)
Reference Rs1057521137(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene HEXA
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.72642916C>T
CLNSRC
CLNACC RCV000443171.1,