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rs1057519021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519021(G;T)
Make rs1057519021(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position151267341
GeneGM2A
is asnp
is mentioned by
dbSNPrs1057519021
dbSNP (old)rs1057519021
ClinGenrs1057519021
ebirs1057519021
HLIrs1057519021
Exacrs1057519021
Gnomadrs1057519021
Varsomers1057519021
LitVarrs1057519021
Maprs1057519021
PheGenIrs1057519021
Biobankrs1057519021
1000 genomesrs1057519021
hgdprs1057519021
ensemblrs1057519021
gopubmedrs1057519021
geneviewrs1057519021
scholarrs1057519021
googlers1057519021
pharmgkbrs1057519021
gwascentralrs1057519021
openSNPrs1057519021
23andMers1057519021
23andMe allrs1057519021
SNPshotrs1057519021
SNPdbers1057519021
MSV3drs1057519021
GWAS Ctlgrs1057519021
Max Magnitude0
ClinVar
Risk rs1057519021(T;T)
Alt rs1057519021(T;T)
Reference Rs1057519021(G;G)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene GM2A
CLNDBN Tay-Sachs disease, variant AB
Reversed 0
HGVS NC_000005.9:g.150646902G>T
CLNSRC
CLNACC RCV000416329.1,