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rs121907981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907981(C;C)
Make rs121907981(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72345550
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907981
ebirs121907981
HLIrs121907981
Exacrs121907981
Varsomers121907981
Maprs121907981
PheGenIrs121907981
hapmaprs121907981
1000 genomesrs121907981
hgdprs121907981
ensemblrs121907981
gopubmedrs121907981
geneviewrs121907981
scholarrs121907981
googlers121907981
pharmgkbrs121907981
gwascentralrs121907981
openSNPrs121907981
23andMers121907981
23andMe allrs121907981
SNP Nexus

SNPshotrs121907981
SNPdbers121907981
MSV3drs121907981
GWAS Ctlgrs121907981
Max Magnitude0
OMIM606869
Desc
Variant0055
Relatedalso
ClinVar
Risk rs121907981(C;C)
Alt rs121907981(C;C)
Reference rs121907981(G;G)
Significance Pathogenic
Disease Gm2-gangliosidosis
Variation info
Gene HEXA
CLNDBN Gm2-gangliosidosis, subacute
Reversed 1
HGVS NC_000015.9:g.72637891C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004147.2,