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.
CATARACT, AUTOSOMAL DOMINANT
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
10 0.790 0.200 21 43172104 missense variant C/A;T snv 0.800 1.000 7 1998 2013
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2003 2003
Congenital coloboma of iris
CUI: C0266551
Disease: Congenital coloboma of iris
1 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007
Nuclear cataract
CUI: C0392557
Disease: Nuclear cataract
11 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007
Nuclear non-senile cataract
CUI: C1112705
Disease: Nuclear non-senile cataract
11 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007