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rs727503959

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503959(C;C)
Make rs727503959(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position74705325
GeneHEXB
is asnp
is mentioned by
dbSNPrs727503959
ebirs727503959
HLIrs727503959
Exacrs727503959
Varsomers727503959
Maprs727503959
PheGenIrs727503959
hapmaprs727503959
1000 genomesrs727503959
hgdprs727503959
ensemblrs727503959
gopubmedrs727503959
geneviewrs727503959
scholarrs727503959
googlers727503959
pharmgkbrs727503959
gwascentralrs727503959
openSNPrs727503959
23andMers727503959
23andMe allrs727503959
SNP Nexus

SNPshotrs727503959
SNPdbers727503959
MSV3drs727503959
GWAS Ctlgrs727503959
Max Magnitude0
ClinVar
Risk rs727503959(C;C)
Alt rs727503959(C;C)
Reference rs727503959(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.74001150G>C
CLNSRC
CLNACC RCV000153358.2, RCV000179319.1,