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rs153478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs153478(A;G)
Make rs153478(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151259878
GeneGM2A
is asnp
is mentioned by
dbSNPrs153478
dbSNP (old)rs153478
ClinGenrs153478
ebirs153478
HLIrs153478
Exacrs153478
Gnomadrs153478
Varsomers153478
LitVarrs153478
Maprs153478
PheGenIrs153478
Biobankrs153478
1000 genomesrs153478
hgdprs153478
ensemblrs153478
gopubmedrs153478
geneviewrs153478
scholarrs153478
googlers153478
pharmgkbrs153478
gwascentralrs153478
openSNPrs153478
23andMers153478
23andMe allrs153478
SNPshotrs153478
SNPdbers153478
MSV3drs153478
GWAS Ctlgrs153478
GMAF0.185
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs153478(G;G)
Alt rs153478(G;G)
Reference Rs153478(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.150639439A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000153333.4, RCV000286625.1,