PHF3, PHD finger protein 3, 23469

N. diseases: 12; N. variants: 28
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: rs763028732
rs763028732 		1.000 0.080 6 63721619 frameshift variant -/A delins 1.9E-05; 1.9E-05 2.8E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs888739369
rs888739369 		1.000 0.080 6 63721012 missense variant C/A snv 6.4E-06 2.8E-05
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1326370032
rs1326370032 		0.925 0.080 6 63720695 frameshift variant AATTTTGCCAACAAAATTGG/- del 6.5E-06 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1326370032
rs1326370032 		0.925 0.080 6 63720695 frameshift variant AATTTTGCCAACAAAATTGG/- del 6.5E-06 2.8E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs751629543
rs751629543 		0.925 0.080 6 63726615 frameshift variant AGGAA/- delins 2.8E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs751629543
rs751629543 		0.925 0.080 6 63726615 frameshift variant AGGAA/- delins 2.8E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs770748359
rs770748359 		0.925 0.080 6 63720736 frameshift variant GATATTTACC/- delins 1.7E-04 1.3E-04
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2014 2015
dbSNP: rs770748359
rs770748359 		0.925 0.080 6 63720736 frameshift variant GATATTTACC/- delins 1.7E-04 1.3E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs528919874
rs528919874 		0.925 0.080 6 63721376 frameshift variant CTGCATGT/- delins 7.5E-04 6.7E-04
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2010 2010
dbSNP: rs528919874
rs528919874 		0.925 0.080 6 63721376 frameshift variant CTGCATGT/- delins 7.5E-04 6.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs553840761
rs553840761 		1.000 0.080 6 63720846 missense variant T/C snv 1.5E-04 9.8E-04
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs111991705
rs111991705 		1.000 0.080 6 63721609 missense variant C/T snv 5.1E-03 7.0E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019