ARMC9, armadillo repeat containing 9, 80210

N. diseases: 80; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759799287
rs759799287
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
0.800 GeneticVariation UNIPROT Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. 28625504 2017
dbSNP: rs1114167449
rs1114167449
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
T 0.800 CausalMutation CLINVAR
dbSNP: rs1114167449
rs1114167449
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
0.800 GeneticVariation UNIPROT
dbSNP: rs750247691
rs750247691
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
0.800 GeneticVariation UNIPROT
dbSNP: rs750247691
rs750247691
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
A 0.800 CausalMutation CLINVAR
dbSNP: rs753432312
rs753432312
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
T 0.800 CausalMutation CLINVAR
dbSNP: rs753432312
rs753432312
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
0.800 GeneticVariation UNIPROT
dbSNP: rs759799287
rs759799287
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
A 0.800 CausalMutation CLINVAR
dbSNP: rs759799287
rs759799287
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
T 0.800 CausalMutation CLINVAR
dbSNP: rs780265931
rs780265931
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
0.800 GeneticVariation UNIPROT
dbSNP: rs780265931
rs780265931
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
A 0.800 CausalMutation CLINVAR
dbSNP: rs1114167448
rs1114167448
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
C 0.700 CausalMutation CLINVAR
dbSNP: rs1553611393
rs1553611393
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
A 0.700 CausalMutation CLINVAR
dbSNP: rs372770167
rs372770167
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
T 0.700 CausalMutation CLINVAR
dbSNP: rs766572502
rs766572502
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
CUI: C4539937
Disease:
JOUBERT SYNDROME 30
A 0.700 GeneticVariation CLINVAR