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: rs1165454778
rs1165454778 		1.000 0.080 6 63720864 frameshift variant TA/- delins 1.4E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1168101857
rs1168101857 		0.925 0.080 6 63726584 frameshift variant T/- del 1.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1168101857
rs1168101857 		0.925 0.080 6 63726584 frameshift variant T/- del 1.3E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs1427770112
rs1427770112 		1.000 0.080 6 63720949 frameshift variant TTCT/- delins
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1435861529
rs1435861529 		6 63762538 missense variant C/T snv 2.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1554163919
rs1554163919 		1.000 0.080 6 63721235 frameshift variant ATTG/- delins
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554163929
rs1554163929 		1.000 0.080 6 63721353 frameshift variant T/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236064
rs527236064 		1.000 0.080 6 63778111 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236066
rs527236066 		0.925 0.080 6 63762613 stop gained C/T snv 2.6E-05 7.0E-06
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236066
rs527236066 		0.925 0.080 6 63762613 stop gained C/T snv 2.6E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236070
rs527236070 		1.000 0.080 6 63721651 frameshift variant -/TGCA delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
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: rs764229134
rs764229134 		0.925 0.080 6 63726596 frameshift variant GT/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs776526721
rs776526721 		1.000 0.080 6 63721201 frameshift variant C/- delins 3.2E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs137853190
rs137853190 		0.925 0.080 6 63720626 stop gained A/T snv 1.6E-05
CUI: C1864446
Disease: Retinitis Pigmentosa 25
Retinitis Pigmentosa 25 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2008 2010
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: 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
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: rs1349879153
rs1349879153 		1.000 0.080 6 63721795 missense variant C/A snv 2.7E-05 1.4E-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: rs137853190
rs137853190 		0.925 0.080 6 63720626 stop gained A/T snv 1.6E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1415160006
rs1415160006 		1.000 0.080 6 63720689 missense variant A/T snv 7.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs319924
rs319924 		0.925 0.040 6 63777354 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018