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rs398123450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123450(A;G)
Make rs398123450(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position74713531
GeneHEXB
is asnp
is mentioned by
dbSNPrs398123450
ebirs398123450
HLIrs398123450
Exacrs398123450
Varsomers398123450
Maprs398123450
PheGenIrs398123450
hapmaprs398123450
1000 genomesrs398123450
hgdprs398123450
ensemblrs398123450
gopubmedrs398123450
geneviewrs398123450
scholarrs398123450
googlers398123450
pharmgkbrs398123450
gwascentralrs398123450
openSNPrs398123450
23andMers398123450
23andMe allrs398123450
SNP Nexus

SNPshotrs398123450
SNPdbers398123450
MSV3drs398123450
GWAS Ctlgrs398123450
Max Magnitude0
ClinVar
Risk rs398123450(G;G)
Alt rs398123450(G;G)
Reference rs398123450(A;A)
Significance Probable-Pathogenic
Disease not provided Sandhoff disease
Variation info
Gene HEXB
CLNDBN not provided Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74009356A>G
CLNSRC ClinVar Emory University
CLNACC RCV000079067.3, RCV000179766.1,