CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
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: rs397514603
rs397514603 		1.000 0.080 X 85879054 missense variant T/C snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 3 1994 2011
dbSNP: rs776256380
rs776256380 		1.000 0.080 X 85958965 stop gained G/A snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2019 2019
dbSNP: rs886041179
rs886041179 		1.000 0.080 X 85958881 stop gained G/A snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2017 2017
dbSNP: rs786204761
rs786204761 		1.000 0.080 X 86027490 splice donor variant C/A;T snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 4 1999 2006
dbSNP: rs386833676
rs386833676 		1.000 0.080 X 85878962 splice donor variant -/A delins 1.2E-05
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 1992 1992
dbSNP: rs886041178
rs886041178 		1.000 0.080 X 85958923 stop gained G/A;T snv 1.1E-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: rs1057516265
rs1057516265 		1.000 0.080 X 86047532 start lost T/C snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs132630263
rs132630263 		1.000 0.080 X 85900700 stop gained GG/TC mnv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs132630264
rs132630264 		1.000 0.080 X 85894214 stop gained G/T snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs132630265
rs132630265 		1.000 0.080 X 85894227 stop gained C/A snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs132630266
rs132630266 		1.000 0.080 X 85957918 stop gained G/A snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs132630267
rs132630267 		1.000 0.080 X 85894201 stop gained G/T snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555955061
rs1555955061 		X 85965588 intron variant T/C snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 0
dbSNP: rs1555955061
rs1555955061 		X 85965588 intron variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1555958073
rs1555958073 		1.000 0.080 X 85978801 frameshift variant T/- delins
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555968874
rs1555968874 		0.925 0.040 X 86027530 inframe deletion AGC/- delins
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		Eye Diseases 0.700 0
dbSNP: rs1555968874
rs1555968874 		0.925 0.040 X 86027530 inframe deletion AGC/- delins
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		Eye Diseases 0.700 0
dbSNP: rs1556307713
rs1556307713 		1.000 0.080 X 85957977 splice acceptor variant T/C snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236048
rs527236048 		1.000 0.080 X 85958872 stop gained G/A snv
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587776746
rs587776746 		1.000 0.080 X 85878987 frameshift variant ACAA/- delins 9.5E-06
CUI: C0008525
Disease: Choroideremia
Choroideremia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs374880482
rs374880482 		0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs374880482
rs374880482 		0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020