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rs132630329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630329(C;T)
Make rs132630329(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30720639
GeneGK
is asnp
is mentioned by
dbSNPrs132630329
ebirs132630329
HLIrs132630329
Exacrs132630329
Varsomers132630329
Maprs132630329
PheGenIrs132630329
hapmaprs132630329
1000 genomesrs132630329
hgdprs132630329
ensemblrs132630329
gopubmedrs132630329
geneviewrs132630329
scholarrs132630329
googlers132630329
pharmgkbrs132630329
gwascentralrs132630329
openSNPrs132630329
23andMers132630329
23andMe allrs132630329
SNP Nexus

SNPshotrs132630329
SNPdbers132630329
MSV3drs132630329
GWAS Ctlgrs132630329
Max Magnitude0
OMIM300474
Desc
Variant0005
Relatedalso
ClinVar
Risk rs132630329(T;T)
Alt rs132630329(T;T)
Reference rs132630329(C;C)
Significance Pathogenic
Disease Deficiency of glycerol kinase
Variation info
Gene GK
CLNDBN Deficiency of glycerol kinase
Reversed 0
HGVS NC_000023.10:g.30738756C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011692.6,