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rs153477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs153477(A;G)
Make rs153477(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151259848
GeneGM2A
is asnp
is mentioned by
dbSNPrs153477
dbSNP (classic)rs153477
ClinGenrs153477
ebirs153477
HLIrs153477
Exacrs153477
Gnomadrs153477
Varsomers153477
LitVarrs153477
Maprs153477
PheGenIrs153477
Biobankrs153477
1000 genomesrs153477
hgdprs153477
ensemblrs153477
geneviewrs153477
scholarrs153477
googlers153477
pharmgkbrs153477
gwascentralrs153477
openSNPrs153477
23andMers153477
SNPshotrs153477
SNPdbers153477
MSV3drs153477
GWAS Ctlgrs153477
GMAF0.3618
Max Magnitude0
? (A;A) (A;G) (G;G) 28





ClinVar
Risk rs153477(G;G)
Alt rs153477(G;G)
Reference Rs153477(A;A)
Significance Non-pathogenic
Disease not specified Tay-Sachs disease
Variation info
Gene GM2A
CLNDBN not specified Tay-Sachs disease, variant AB
Reversed 0
HGVS NC_000005.9:g.150639409A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000153332.4, RCV000376352.1,