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rs132630328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs132630328(A;T)
Make rs132630328(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30720721
GeneGK
is asnp
is mentioned by
dbSNPrs132630328
ebirs132630328
HLIrs132630328
Exacrs132630328
Varsomers132630328
Maprs132630328
PheGenIrs132630328
hapmaprs132630328
1000 genomesrs132630328
hgdprs132630328
ensemblrs132630328
gopubmedrs132630328
geneviewrs132630328
scholarrs132630328
googlers132630328
pharmgkbrs132630328
gwascentralrs132630328
openSNPrs132630328
23andMers132630328
23andMe allrs132630328
SNP Nexus

SNPshotrs132630328
SNPdbers132630328
MSV3drs132630328
GWAS Ctlgrs132630328
Max Magnitude0
OMIM300474
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630328(T;T)
Alt rs132630328(T;T)
Reference rs132630328(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.30738838A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011690.3,