rs1232197674, TFAP2B

N. diseases: 5
Source: ALL
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.
CHAR SYNDROME
CUI: C1868570
Disease: CHAR SYNDROME
9 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Central Diabetes Insipidus
CUI: C0687720
Disease: Central Diabetes Insipidus
21 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
7 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019