Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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)
0.800 GeneticVariation UNIPROT Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
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)
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)
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)
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)
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: rs724160014
rs724160014
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs724160015
rs724160015
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs724160016
rs724160016
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs724160017
rs724160017
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs724160018
rs724160018
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs724160019
rs724160019
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs724160024
rs724160024
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs724160025
rs724160025
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1845095
Disease:
DEAFNESS, X-LINKED 5 (disorder)
A 0.700 GeneticVariation 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: C0016202
Disease:
Flatfoot
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
dbSNP: rs761953453
rs761953453
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0023520
Disease:
Leukodystrophy
A 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