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rs398123445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAGC;AAAGC) 0 common in clinvar
(CAAAG;CAAAG) 0 common in clinvar
Make rs398123445(-;-)
Make rs398123445(-;CAAAG)
ReferenceGRCh38 38.1/141
Chromosome5
Position74718359
GeneHEXB
is asnp
is mentioned by
dbSNPrs398123445
ebirs398123445
HLIrs398123445
Exacrs398123445
Varsomers398123445
Maprs398123445
PheGenIrs398123445
hapmaprs398123445
1000 genomesrs398123445
hgdprs398123445
ensemblrs398123445
gopubmedrs398123445
geneviewrs398123445
scholarrs398123445
googlers398123445
pharmgkbrs398123445
gwascentralrs398123445
openSNPrs398123445
23andMers398123445
23andMe allrs398123445
SNP Nexus

SNPshotrs398123445
SNPdbers398123445
MSV3drs398123445
GWAS Ctlgrs398123445
Max Magnitude0
ClinVar
Risk rs398123445(;)
Alt rs398123445(;)
Reference rs398123445(AAAGC;AAAGC)
Significance Pathogenic
Disease not provided Sandhoff disease
Variation info
Gene HEXB
CLNDBN not provided Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74014184_74014188delCAAAG
CLNSRC ClinVar
CLNACC RCV000079056.3, RCV000173703.1,