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rs587776740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776740(C;C)
Make rs587776740(C;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position30696041
GeneGK
is asnp
is mentioned by
dbSNPrs587776740
ebirs587776740
HLIrs587776740
Exacrs587776740
Varsomers587776740
Maprs587776740
PheGenIrs587776740
hapmaprs587776740
1000 genomesrs587776740
hgdprs587776740
ensemblrs587776740
gopubmedrs587776740
geneviewrs587776740
scholarrs587776740
googlers587776740
pharmgkbrs587776740
gwascentralrs587776740
openSNPrs587776740
23andMers587776740
23andMe allrs587776740
SNP Nexus

SNPshotrs587776740
SNPdbers587776740
MSV3drs587776740
GWAS Ctlgrs587776740
Max Magnitude0
ClinVar
Risk rs587776740(C;C)
Alt rs587776740(C;C)
Reference rs587776740(G;G)
Significance Pathogenic
Disease Deficiency of glycerol kinase
Variation info
Gene GK
CLNDBN Deficiency of glycerol kinase
Reversed 0
HGVS NC_000023.10:g.30714158G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011688.6,