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rs794727049

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727049(G;G)
Make rs794727049(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position74720488
GeneHEXB
is asnp
is mentioned by
dbSNPrs794727049
ebirs794727049
HLIrs794727049
Exacrs794727049
Varsomers794727049
Maprs794727049
PheGenIrs794727049
hapmaprs794727049
1000 genomesrs794727049
hgdprs794727049
ensemblrs794727049
gopubmedrs794727049
geneviewrs794727049
scholarrs794727049
googlers794727049
pharmgkbrs794727049
gwascentralrs794727049
openSNPrs794727049
23andMers794727049
23andMe allrs794727049
SNP Nexus

SNPshotrs794727049
SNPdbers794727049
MSV3drs794727049
GWAS Ctlgrs794727049
Max Magnitude0
ClinVar
Risk rs794727049(G;G)
Alt rs794727049(G;G)
Reference rs794727049(T;T)
Significance Probable-Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74016313T>G
CLNSRC
CLNACC RCV000174253.1,