rs132630329

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs132630329(C;T)

Make rs132630329(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

30720639

Gene

GK

is a	snp
is	mentioned by
dbSNP	rs132630329
dbSNP (classic)	rs132630329
ClinGen	rs132630329
ebi	rs132630329
HLI	rs132630329
Exac	rs132630329
Gnomad	rs132630329
Varsome	rs132630329
LitVar	rs132630329
Map	rs132630329
PheGenI	rs132630329
Biobank	rs132630329
1000 genomes	rs132630329
hgdp	rs132630329
ensembl	rs132630329
geneview	rs132630329
scholar	rs132630329
google	rs132630329
pharmgkb	rs132630329
gwascentral	rs132630329
openSNP	rs132630329
23andMe	rs132630329
SNPshot	rs132630329
SNPdbe	rs132630329
MSV3d	rs132630329
GWAS Ctlg	rs132630329

Max Magnitude

0

OMIM	300474
Desc
Variant	0005
Related	also

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	RCV000011692.7,