ZNF469, zinc finger protein 469, 84627

N. diseases: 101; N. variants: 27
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: rs1274585667
rs1274585667
1.000 0.040 16 88434118 missense variant G/C snv 5.2E-05 2.1E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1420366140
rs1420366140
1.000 0.040 16 88429410 missense variant C/T snv 7.0E-06
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs387907063
rs387907063
0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs528085780
rs528085780
1.000 0.040 16 88433145 missense variant G/A snv 5.0E-04 2.3E-04
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs553460850
rs553460850
1.000 0.040 16 88431020 missense variant G/A snv 2.4E-04 2.8E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2017 2017