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
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: 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
dbSNP: rs1057518895
rs1057518895
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C0016202
Disease:
Flatfoot
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906500
rs387906500
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C3151753
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
C 0.700 CausalMutation CLINVAR
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: C1852271
Disease:
Auditory neuropathy
A 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: rs724160016
rs724160016
Entrez Id: 9131;9363
Gene Symbol: AIFM1;RAB33A
AIFM1;RAB33A
CUI: C1852271
Disease:
Auditory neuropathy
AG 0.700 GeneticVariation CLINVAR