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rs121907983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907983(A;A)
Make rs121907983(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position74720648
GeneHEXB
is asnp
is mentioned by
dbSNPrs121907983
ebirs121907983
HLIrs121907983
Exacrs121907983
Varsomers121907983
Maprs121907983
PheGenIrs121907983
hapmaprs121907983
1000 genomesrs121907983
hgdprs121907983
ensemblrs121907983
gopubmedrs121907983
geneviewrs121907983
scholarrs121907983
googlers121907983
pharmgkbrs121907983
gwascentralrs121907983
openSNPrs121907983
23andMers121907983
23andMe allrs121907983
SNP Nexus

SNPshotrs121907983
SNPdbers121907983
MSV3drs121907983
GWAS Ctlgrs121907983
Max Magnitude0
OMIM606873
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121907983(A;A)
Alt rs121907983(A;A)
Reference rs121907983(G;G)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease, adult type
Reversed 0
HGVS NC_000005.9:g.74016473G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004083.2,