PRCD, photoreceptor disc component, 768206

N. diseases: 40; N. variants: 6
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: rs121918369
rs121918369 		1.000 0.080 17 76540146 missense variant G/A snv
CUI: C1864621
Disease: RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 2006 2016
dbSNP: rs895157
rs895157 		17 76544835 3 prime UTR variant A/C;T snv 0.18
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs387907268
rs387907268 		0.925 0.080 17 76540205 stop gained C/G;T snv 4.4E-06; 2.6E-05
CUI: C1864621
Disease: RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs387907268
rs387907268 		0.925 0.080 17 76540205 stop gained C/G;T snv 4.4E-06; 2.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236092
rs527236092 		1.000 0.080 17 76540143 start lost T/C snv 4.4E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs767439982
rs767439982 		1.000 0.080 17 76540518 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C1864621
Disease: RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 36 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527451635
rs527451635 		1.000 0.080 17 76540193 stop gained C/T snv 8.5E-06 7.6E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013