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rs730882196

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882196(C;T)
Make rs730882196(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position151259837
GeneGM2A
is asnp
is mentioned by
dbSNPrs730882196
ebirs730882196
HLIrs730882196
Exacrs730882196
Varsomers730882196
Maprs730882196
PheGenIrs730882196
hapmaprs730882196
1000 genomesrs730882196
hgdprs730882196
ensemblrs730882196
gopubmedrs730882196
geneviewrs730882196
scholarrs730882196
googlers730882196
pharmgkbrs730882196
gwascentralrs730882196
openSNPrs730882196
23andMers730882196
23andMe allrs730882196
SNP Nexus

SNPshotrs730882196
SNPdbers730882196
MSV3drs730882196
GWAS Ctlgrs730882196
Max Magnitude0
ClinVar
Risk rs730882196(T;T)
Alt rs730882196(T;T)
Reference rs730882196(C;C)
Significance Pathogenic
Disease Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy Tay-Sachs disease
Variation info
Gene GM2A
CLNDBN Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy Tay-Sachs disease, variant AB
Reversed 0
HGVS NC_000005.9:g.150639398C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162097.1, RCV000235077.1,