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rs132630331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs132630331(A;G)
Make rs132630331(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30707584
GeneGK
is asnp
is mentioned by
dbSNPrs132630331
ebirs132630331
HLIrs132630331
Exacrs132630331
Varsomers132630331
Maprs132630331
PheGenIrs132630331
hapmaprs132630331
1000 genomesrs132630331
hgdprs132630331
ensemblrs132630331
gopubmedrs132630331
geneviewrs132630331
scholarrs132630331
googlers132630331
pharmgkbrs132630331
gwascentralrs132630331
openSNPrs132630331
23andMers132630331
23andMe allrs132630331
SNP Nexus

SNPshotrs132630331
SNPdbers132630331
MSV3drs132630331
GWAS Ctlgrs132630331
Max Magnitude0
OMIM300474
Desc
Variant0008
Relatedalso
ClinVar
Risk rs132630331(G;G)
Alt rs132630331(G;G)
Reference rs132630331(A;A)
Significance Pathogenic
Disease Deficiency of glycerol kinase
Variation info
Gene GK
CLNDBN Deficiency of glycerol kinase
Reversed 0
HGVS NC_000023.10:g.30725701A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011695.3,