TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909575
rs121909575
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs151344528
rs151344528
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs151344528
rs151344528
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs151344531
rs151344531
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
A 0.710 CausalMutation CLINVAR
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0235752
Disease:
Port-Wine Stain
C 0.700 CausalMutation CLINVAR
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0341787
Disease:
Bifid scrotum
C 0.700 CausalMutation CLINVAR
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C4551492
Disease:
Micropenis
C 0.700 CausalMutation CLINVAR
dbSNP: rs121909574
rs121909574
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C1691215
Disease:
Penile hypospadias
C 0.700 CausalMutation CLINVAR
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs151344525
rs151344525
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs151344530
rs151344530
Entrez Id: 7020;109729173
Gene Symbol: TFAP2A;TFAP2A-AS2
TFAP2A;TFAP2A-AS2
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554110673
rs1554110673
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0376524
Disease:
Branchio-Oculo-Facial Syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0239234
Disease:
Low set ears
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0023316
Disease:
Lens Subluxation
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0028738
Disease:
Nystagmus
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0002418
Disease:
Amblyopia
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0020534
Disease:
Orbital separation excessive
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0014877
Disease:
Esotropia
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0521525
Disease:
Short neck
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0240635
Disease:
Byzanthine arch palate
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0522214
Disease:
Abnormal visual evoked potential
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0151611
Disease:
Electroencephalogram abnormal
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0678230
Disease:
Congenital Epicanthus
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0026010
Disease:
Microphthalmos
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554110735
rs1554110735
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0240063
Disease:
Coloboma of iris
C 0.700 CausalMutation CLINVAR