Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908571
rs121908571
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908573
rs121908573
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
C 0.800 CausalMutation CLINVAR
dbSNP: rs121908574
rs121908574
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908575
rs121908575
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908577
rs121908577
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121908578
rs121908578
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908580
rs121908580
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs144885874
rs144885874
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs386833857
rs386833857
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
A 0.800 GeneticVariation CLINVAR
dbSNP: rs386833858
rs386833858
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
C 0.800 GeneticVariation CLINVAR
dbSNP: rs587777278
rs587777278
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease:
Pili torti-deafness syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057516255
rs1057516255
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
CA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516346
rs1057516346
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516346
rs1057516346
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516786
rs1057516786
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516802
rs1057516802
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516954
rs1057516954
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517412
rs1057517412
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057521059
rs1057521059
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
0.700 GeneticVariation UNIPROT
dbSNP: rs121908572
rs121908572
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1850598
Disease:
Leigh Syndrome due to Mitochondrial Complex III Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0266006
Disease:
Pili torti-deafness syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C3541471
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908576
rs121908576
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C0023264
Disease:
Leigh Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908578
rs121908578
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C4016851
Disease:
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908579
rs121908579
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C4016851
Disease:
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
C 0.700 CausalMutation CLINVAR