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rs104893897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893897(G;T)
Make rs104893897(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position151259833
GeneGM2A
is asnp
is mentioned by
dbSNPrs104893897
ebirs104893897
HLIrs104893897
Exacrs104893897
Varsomers104893897
Maprs104893897
PheGenIrs104893897
hapmaprs104893897
1000 genomesrs104893897
hgdprs104893897
ensemblrs104893897
gopubmedrs104893897
geneviewrs104893897
scholarrs104893897
googlers104893897
pharmgkbrs104893897
gwascentralrs104893897
openSNPrs104893897
23andMers104893897
23andMe allrs104893897
SNP Nexus

SNPshotrs104893897
SNPdbers104893897
MSV3drs104893897
GWAS Ctlgrs104893897
Max Magnitude0
OMIM613109
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893897(T;T)
Alt rs104893897(T;T)
Reference rs104893897(G;G)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene GM2A
CLNDBN Tay-Sachs disease, variant AB
Reversed 0
HGVS NC_000005.9:g.150639394G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000425.2,