CHKB, choline kinase beta, 1120

N. diseases: 48; N. variants: 19
Disease: Muscular Dystrophy, Congenital, Megaconial Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555894289
rs1555894289
Entrez Id: 1120;1375;386593
Gene Symbol: CHKB;CPT1B;CHKB-CPT1B
CHKB;CPT1B;CHKB-CPT1B
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		C 0.700 GeneticVariation CLINVAR A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 21665002 2011
dbSNP: rs1333100080
rs1333100080
Entrez Id: 1120;386593;100144603
Gene Symbol: CHKB;CHKB-CPT1B;CHKB-DT
CHKB;CHKB-CPT1B;CHKB-DT
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569054086
rs1569054086
Entrez Id: 1120;386593;100144603
Gene Symbol: CHKB;CHKB-CPT1B;CHKB-DT
CHKB;CHKB-CPT1B;CHKB-DT
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569054508
rs1569054508
Entrez Id: 1120;386593;100144603
Gene Symbol: CHKB;CHKB-CPT1B;CHKB-DT
CHKB;CHKB-CPT1B;CHKB-DT
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907068
rs387907068
Entrez Id: 1120;386593;100144603
Gene Symbol: CHKB;CHKB-CPT1B;CHKB-DT
CHKB;CHKB-CPT1B;CHKB-DT
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907069
rs387907069
Entrez Id: 1120;1375;386593
Gene Symbol: CHKB;CPT1B;CHKB-CPT1B
CHKB;CPT1B;CHKB-CPT1B
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs750764003
rs750764003
Entrez Id: 1120;1375;386593
Gene Symbol: CHKB;CPT1B;CHKB-CPT1B
CHKB;CPT1B;CHKB-CPT1B
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786205117
rs786205117
Entrez Id: 1120;386593;100144603
Gene Symbol: CHKB;CHKB-CPT1B;CHKB-DT
CHKB;CHKB-CPT1B;CHKB-DT
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs786205118
rs786205118
Entrez Id: 1120;1375;386593
Gene Symbol: CHKB;CPT1B;CHKB-CPT1B
CHKB;CPT1B;CHKB-CPT1B
CUI: C1865233
Disease:
Muscular Dystrophy, Congenital, Megaconial Type 		T 0.700 CausalMutation CLINVAR