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rs398123446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123446(A;G)
Make rs398123446(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position74718795
GeneHEXB
is asnp
is mentioned by
dbSNPrs398123446
ebirs398123446
HLIrs398123446
Exacrs398123446
Varsomers398123446
Maprs398123446
PheGenIrs398123446
hapmaprs398123446
1000 genomesrs398123446
hgdprs398123446
ensemblrs398123446
gopubmedrs398123446
geneviewrs398123446
scholarrs398123446
googlers398123446
pharmgkbrs398123446
gwascentralrs398123446
openSNPrs398123446
23andMers398123446
23andMe allrs398123446
SNP Nexus

SNPshotrs398123446
SNPdbers398123446
MSV3drs398123446
GWAS Ctlgrs398123446
Max Magnitude0
ClinVar
Risk rs398123446(G;G)
Alt rs398123446(G;G)
Reference rs398123446(A;A)
Significance Pathogenic
Disease not provided Sandhoff disease
Variation info
Gene HEXB
CLNDBN not provided Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74014620A>G
CLNSRC ClinVar
CLNACC RCV000079057.3, RCV000174010.1,