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rs398123447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123447(G;T)
Make rs398123447(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position74718929
GeneHEXB
is asnp
is mentioned by
dbSNPrs398123447
ebirs398123447
HLIrs398123447
Exacrs398123447
Varsomers398123447
Maprs398123447
PheGenIrs398123447
hapmaprs398123447
1000 genomesrs398123447
hgdprs398123447
ensemblrs398123447
gopubmedrs398123447
geneviewrs398123447
scholarrs398123447
googlers398123447
pharmgkbrs398123447
gwascentralrs398123447
openSNPrs398123447
23andMers398123447
23andMe allrs398123447
SNP Nexus

SNPshotrs398123447
SNPdbers398123447
MSV3drs398123447
GWAS Ctlgrs398123447
Max Magnitude0
ClinVar
Risk rs398123447(T;T)
Alt rs398123447(T;T)
Reference rs398123447(G;G)
Significance Probable-Pathogenic
Disease not provided Sandhoff disease
Variation info
Gene HEXB
CLNDBN not provided Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74014754G>T
CLNSRC ClinVar Emory University
CLNACC RCV000079059.3, RCV000174011.1,