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rs398123443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123443(-;-)
Make rs398123443(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position74685375
GeneHEXB
is asnp
is mentioned by
dbSNPrs398123443
ebirs398123443
HLIrs398123443
Exacrs398123443
Varsomers398123443
Maprs398123443
PheGenIrs398123443
hapmaprs398123443
1000 genomesrs398123443
hgdprs398123443
ensemblrs398123443
gopubmedrs398123443
geneviewrs398123443
scholarrs398123443
googlers398123443
pharmgkbrs398123443
gwascentralrs398123443
openSNPrs398123443
23andMers398123443
23andMe allrs398123443
SNP Nexus

SNPshotrs398123443
SNPdbers398123443
MSV3drs398123443
GWAS Ctlgrs398123443
Max Magnitude0
ClinVar
Risk rs398123443(;)
Alt rs398123443(;)
Reference rs398123443(G;G)
Significance Pathogenic
Disease not provided Sandhoff disease
Variation info
Gene HEXB
CLNDBN not provided Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.73981200delG
CLNSRC HGMD
CLNACC RCV000079054.3, RCV000173146.1,