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rs794727091

From SNPedia

Orientationplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs794727091(-;-)
Make rs794727091(-;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position74720669
GeneHEXB
is asnp
is mentioned by
dbSNPrs794727091
ebirs794727091
HLIrs794727091
Exacrs794727091
Varsomers794727091
Maprs794727091
PheGenIrs794727091
hapmaprs794727091
1000 genomesrs794727091
hgdprs794727091
ensemblrs794727091
gopubmedrs794727091
geneviewrs794727091
scholarrs794727091
googlers794727091
pharmgkbrs794727091
gwascentralrs794727091
openSNPrs794727091
23andMers794727091
23andMe allrs794727091
SNP Nexus

SNPshotrs794727091
SNPdbers794727091
MSV3drs794727091
GWAS Ctlgrs794727091
Max Magnitude0
ClinVar
Risk rs794727091(;)
Alt rs794727091(;)
Reference rs794727091(GA;GA)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74016494_74016495delGA
CLNSRC
CLNACC RCV000174488.1,