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: rs527236076
rs527236076 		1.000 0.080 6 63762520 stop gained A/T snv 1.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 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: rs779983752
rs779983752 		1.000 0.080 6 63726641 stop gained A/C snv 3.9E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: 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