Rs104893892

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893892(C;C)
Make rs104893892(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position151267375
GeneGM2A
is asnp
is mentioned by
dbSNPrs104893892
Exacrs104893892
PheGenIrs104893892
nextbiors104893892
hapmaprs104893892
1000 genomesrs104893892
hgdprs104893892
ensemblrs104893892
gopubmedrs104893892
geneviewrs104893892
scholarrs104893892
googlers104893892
pharmgkbrs104893892
gwascentralrs104893892
openSNPrs104893892
23andMers104893892
23andMe allrs104893892
SNP Nexus

SNPshotrs104893892
SNPdbers104893892
MSV3drs104893892
OMIM613109
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893892(A,C;A,C)
Alt rs104893892(A,C;A,C)
Reference rs104893892(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.150646936G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000422.1,