rs1554110735, TFAP2A

N. diseases: 13
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal visual evoked potential
CUI: C0522214
Disease: Abnormal visual evoked potential
5 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
22 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
66 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
11 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
38 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Lens Subluxation
CUI: C0023316
Disease: Lens Subluxation
3 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
22 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
83 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0