Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519022

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519022(A;T)
Make rs1057519022(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position151266729
GeneGM2A
is asnp
is mentioned by
dbSNPrs1057519022
dbSNP (old)rs1057519022
ClinGenrs1057519022
ebirs1057519022
HLIrs1057519022
Exacrs1057519022
Gnomadrs1057519022
Varsomers1057519022
Maprs1057519022
PheGenIrs1057519022
Biobankrs1057519022
1000 genomesrs1057519022
hgdprs1057519022
ensemblrs1057519022
gopubmedrs1057519022
geneviewrs1057519022
scholarrs1057519022
googlers1057519022
pharmgkbrs1057519022
gwascentralrs1057519022
openSNPrs1057519022
23andMers1057519022
23andMe allrs1057519022
SNPshotrs1057519022
SNPdbers1057519022
MSV3drs1057519022
GWAS Ctlgrs1057519022
Max Magnitude0
ClinVar
Risk rs1057519022(T;T)
Alt rs1057519022(T;T)
Reference Rs1057519022(A;A)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene GM2A
CLNDBN Tay-Sachs disease, variant AB
Reversed 0
HGVS NC_000005.9:g.150646290A>T
CLNSRC
CLNACC RCV000416363.1,