TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 3 2008 2015
dbSNP: rs121909575
rs121909575
1.000 0.040 6 10402590 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2008 2008
dbSNP: rs151344528
rs151344528
1.000 0.040 6 10404512 missense variant G/A;C snv 4.5E-06
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2008 2008
dbSNP: rs151344531
rs151344531
0.925 0.120 6 10402608 missense variant G/A snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2012 2012
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1995 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 1995 2015
dbSNP: rs151344525
rs151344525
0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 1995 2015
dbSNP: rs151344525
rs151344525
0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1995 2015
dbSNP: rs151344530
rs151344530
0.925 0.040 6 10404511 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 1995 2015
dbSNP: rs151344530
rs151344530
0.925 0.040 6 10404511 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1995 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal
0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct
0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
Abnormality of the middle ear ossicles
0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0038379
Disease: Strabismus
Strabismus
Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly
0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540
0.851 0.080 6 10404623 missense variant G/T snv
CUI: C4021230
Disease: Ectopic lacrimal punctum
Ectopic lacrimal punctum
0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540
0.851 0.080 6 10404623 missense variant G/T snv
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip
0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540
0.851 0.080 6 10404623 missense variant G/T snv
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly
0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540
0.851 0.080 6 10404623 missense variant G/T snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540
0.851 0.080 6 10404623 missense variant G/T snv
CUI: C0263498
Disease: Premature canities
Premature canities
0.700 1.000 1 2015 2015