DOLK, dolichol kinase, 22845

N. diseases: 38; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853109
rs137853109 		1.000 0.080 9 128947009 missense variant A/T snv
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs137853110
rs137853110 		1.000 0.080 9 128945982 missense variant T/C;G snv 4.0E-06
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2007 2007
dbSNP: rs1564545929
rs1564545929 		1.000 0.080 9 128946392 missense variant C/A snv
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1564546510
rs1564546510 		1.000 0.080 9 128947301 start lost C/T snv
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907030
rs387907030 		1.000 0.080 9 128946082 missense variant G/C snv
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777137
rs587777137 		1.000 0.080 9 128947302 start lost A/G snv
CUI: C1835849
Disease: Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type Im 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs727503904
rs727503904 		9 128945857 missense variant G/C;T snv
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013