Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569164733
rs1569164733
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0008780
Disease:
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569164733
rs1569164733
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569164829
rs1569164829
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569164829
rs1569164829
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0008780
Disease:
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262806
rs312262806
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262807
rs312262807
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
CA 0.700 CausalMutation CLINVAR
dbSNP: rs312262808
rs312262808
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
C 0.700 CausalMutation CLINVAR
dbSNP: rs312262808
rs312262808
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262809
rs312262809
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
C 0.700 CausalMutation CLINVAR
dbSNP: rs312262810
rs312262810
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262811
rs312262811
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262812
rs312262812
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262813
rs312262813
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
C 0.700 CausalMutation CLINVAR
dbSNP: rs312262814
rs312262814
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262815
rs312262815
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262816
rs312262816
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262817
rs312262817
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262818
rs312262818
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262819
rs312262819
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
C 0.700 CausalMutation CLINVAR
dbSNP: rs312262820
rs312262820
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262821
rs312262821
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262822
rs312262822
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262823
rs312262823
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
AG 0.700 CausalMutation CLINVAR
dbSNP: rs312262825
rs312262825
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262826
rs312262826
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 CausalMutation CLINVAR