Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.800 CausalMutation CLINVAR
dbSNP: rs1060500123
rs1060500123
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500123
rs1060500123
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs122460150
rs122460150
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555900675
rs1555900675
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555900734
rs1555900734
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
TTAAAAGAGCTGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555901137
rs1555901137
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555901146
rs1555901146
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555901169
rs1555901169
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555902640
rs1555902640
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
TA 0.700 CausalMutation CLINVAR
dbSNP: rs1555902640
rs1555902640
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
TA 0.700 CausalMutation CLINVAR
dbSNP: rs1555902866
rs1555902866
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555902866
rs1555902866
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555904480
rs1555904480
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1569141500
rs1569141500
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569145145
rs1569145145
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0008780
Disease:
Ciliary Motility Disorders
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0349588
Disease:
Short stature
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0006267
Disease:
Bronchiectasis
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C4551493
Disease:
Situs inversus totalis
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C4281993
Disease:
Neonatal respiratory distress
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C3806482
Disease:
Recurrent respiratory infections
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569162748
rs1569162748
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0016202
Disease:
Flatfoot
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569163423
rs1569163423
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis
GT 0.700 CausalMutation CLINVAR
dbSNP: rs1569163423
rs1569163423
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0008780
Disease:
Ciliary Motility Disorders
GT 0.700 CausalMutation CLINVAR