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rs132630330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630330(C;C)
Make rs132630330(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30724124
GeneGK
is asnp
is mentioned by
dbSNPrs132630330
ebirs132630330
HLIrs132630330
Exacrs132630330
Varsomers132630330
Maprs132630330
PheGenIrs132630330
hapmaprs132630330
1000 genomesrs132630330
hgdprs132630330
ensemblrs132630330
gopubmedrs132630330
geneviewrs132630330
scholarrs132630330
googlers132630330
pharmgkbrs132630330
gwascentralrs132630330
openSNPrs132630330
23andMers132630330
23andMe allrs132630330
SNP Nexus

SNPshotrs132630330
SNPdbers132630330
MSV3drs132630330
GWAS Ctlgrs132630330
Max Magnitude0
OMIM300474
Desc
Variant0006
Relatedalso
ClinVar
Risk rs132630330(C;C)
Alt rs132630330(C;C)
Reference rs132630330(T;T)
Significance Pathogenic
Disease Deficiency of glycerol kinase
Variation info
Gene GK
CLNDBN Deficiency of glycerol kinase
Reversed 0
HGVS NC_000023.10:g.30742241T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011693.7,