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rs1060499701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499701(C;C)
Make rs1060499701(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position74685559
GeneHEXB
is asnp
is mentioned by
dbSNPrs1060499701
dbSNP (classic)rs1060499701
ClinGenrs1060499701
ebirs1060499701
HLIrs1060499701
Exacrs1060499701
Gnomadrs1060499701
Varsomers1060499701
LitVarrs1060499701
Maprs1060499701
PheGenIrs1060499701
Biobankrs1060499701
1000 genomesrs1060499701
hgdprs1060499701
ensemblrs1060499701
geneviewrs1060499701
scholarrs1060499701
googlers1060499701
pharmgkbrs1060499701
gwascentralrs1060499701
openSNPrs1060499701
23andMers1060499701
23andMe allrs1060499701
SNPshotrs1060499701
SNPdbers1060499701
MSV3drs1060499701
GWAS Ctlgrs1060499701
Max Magnitude0
ClinVar
Risk rs1060499701(C;C)
Alt rs1060499701(C;C)
Reference Rs1060499701(G;G)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.73981384G>C
CLNSRC
CLNACC RCV000449491.1,