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rs137852797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852797(C;C)
Make rs137852797(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151266899
GeneGM2A
is asnp
is mentioned by
dbSNPrs137852797
ebirs137852797
HLIrs137852797
Exacrs137852797
Varsomers137852797
Maprs137852797
PheGenIrs137852797
hapmaprs137852797
1000 genomesrs137852797
hgdprs137852797
ensemblrs137852797
gopubmedrs137852797
geneviewrs137852797
scholarrs137852797
googlers137852797
pharmgkbrs137852797
gwascentralrs137852797
openSNPrs137852797
23andMers137852797
23andMe allrs137852797
SNP Nexus

SNPshotrs137852797
SNPdbers137852797
MSV3drs137852797
GWAS Ctlgrs137852797
Max Magnitude0
OMIM613109
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852797(C;C)
Alt rs137852797(C;C)
Reference rs137852797(T;T)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene GM2A
CLNDBN Tay-Sachs disease, variant AB
Reversed 0
HGVS NC_000005.9:g.150646460T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000421.2,