Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864468
rs281864468
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0795910
Disease:
COWCHOCK SYNDROME
0.800 GeneticVariation UNIPROT Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. 26004228 2015
dbSNP: rs724160026
rs724160026
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
dbSNP: rs863225431
rs863225431
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
dbSNP: rs863225432
rs863225432
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
dbSNP: rs281864468
rs281864468
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0795910
Disease:
COWCHOCK SYNDROME
0.800 GeneticVariation UNIPROT Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. 23217327 2012
dbSNP: rs281864468
rs281864468
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0795910
Disease:
COWCHOCK SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs724160020
rs724160020
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs724160020
rs724160020
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs724160020
rs724160020
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
A 0.800 GeneticVariation CLINVAR
dbSNP: rs724160021
rs724160021
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
T 0.800 GeneticVariation CLINVAR
dbSNP: rs724160021
rs724160021
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs724160021
rs724160021
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs724160022
rs724160022
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs724160022
rs724160022
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
A 0.800 GeneticVariation CLINVAR
dbSNP: rs724160023
rs724160023
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
T 0.800 GeneticVariation CLINVAR
dbSNP: rs724160023
rs724160023
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs724160026
rs724160026
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
G 0.800 GeneticVariation CLINVAR
dbSNP: rs863225431
rs863225431
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs863225432
rs863225432
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs1223488720
rs1223488720
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.700 GeneticVariation UNIPROT Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
dbSNP: rs184474885
rs184474885
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
0.700 GeneticVariation UNIPROT Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
dbSNP: rs1057516211
rs1057516211
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C3151753
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518895
rs1057518895
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0427065
Disease:
Distal muscle weakness
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518895
rs1057518895
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518895
rs1057518895
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1866141
Disease:
Foot dorsiflexor weakness
G 0.700 GeneticVariation CLINVAR