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rs1057519465

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
Position72346598
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519465
dbSNP (old)rs1057519465
ClinGenrs1057519465
ebirs1057519465
HLIrs1057519465
Exacrs1057519465
Gnomadrs1057519465
Varsomers1057519465
Maprs1057519465
PheGenIrs1057519465
Biobankrs1057519465
1000 genomesrs1057519465
hgdprs1057519465
ensemblrs1057519465
gopubmedrs1057519465
geneviewrs1057519465
scholarrs1057519465
googlers1057519465
pharmgkbrs1057519465
gwascentralrs1057519465
openSNPrs1057519465
23andMers1057519465
23andMe allrs1057519465
SNPshotrs1057519465
SNPdbers1057519465
MSV3drs1057519465
GWAS Ctlgrs1057519465
Max Magnitude8.8
ClinVar
Risk Rs1057519465(A;A)
Alt Rs1057519465(A;A)
Reference Rs1057519465(G;G)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72638939C>T
CLNSRC
CLNACC RCV000416427.1,