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: rs387907063
rs387907063 		0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.710 1.000 1 2015 2015
dbSNP: rs78588220
rs78588220 		16 88390762 intron variant C/T snv 8.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs273585616
rs273585616 		1.000 0.040 16 88427547 missense variant G/C snv
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585617
rs273585617 		1.000 0.040 16 88427760 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585618
rs273585618 		1.000 0.040 16 88430169 missense variant C/G;T snv 9.0E-04
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585619
rs273585619 		1.000 0.040 16 88430589 missense variant A/C snv 2.0E-05 2.1E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585620
rs273585620 		1.000 0.040 16 88431917 missense variant G/A;T snv 3.3E-05; 6.5E-06
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585623
rs273585623 		1.000 0.040 16 88433649 missense variant C/A;T snv 7.3E-04; 6.7E-06
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585624
rs273585624 		1.000 0.040 16 88434279 missense variant C/A snv 5.2E-05 9.8E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585625
rs273585625 		1.000 0.040 16 88436466 missense variant G/T snv 9.6E-05 3.3E-04
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585629
rs273585629 		1.000 0.040 16 88438655 missense variant G/A snv 7.4E-05 9.1E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585630
rs273585630 		1.000 0.040 16 88439169 missense variant C/G;T snv 6.5E-06
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585631
rs273585631 		1.000 0.040 16 88427569 synonymous variant G/A snv 3.0E-05 2.1E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585632
rs273585632 		1.000 0.040 16 88428190 missense variant G/A;C snv
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585634
rs273585634 		1.000 0.040 16 88429948 synonymous variant G/A;T snv 1.3E-05; 1.3E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs273585637
rs273585637 		1.000 0.040 16 88438397 missense variant C/A;T snv 6.8E-06
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs281865144
rs281865144 		1.000 0.040 16 88427807 missense variant G/A snv 7.0E-06
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs281865146
rs281865146 		1.000 0.040 16 88429533 missense variant C/A snv 2.0E-05 4.2E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs281865147
rs281865147 		1.000 0.040 16 88430365 inframe insertion GTCGGG/-;GTCGGGGTCGGG delins 4.9E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs281865149
rs281865149 		1.000 0.040 16 88432614 missense variant G/A snv 1.4E-04 1.7E-04
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs281865150
rs281865150 		1.000 0.040 16 88433151 missense variant A/T snv
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs281865152
rs281865152 		1.000 0.040 16 88435401 missense variant G/A;T snv 9.1E-05; 1.3E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs387907062
rs387907062 		1.000 0.160 16 88437570 missense variant G/A snv
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
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