PRPF8, pre-mRNA processing factor 8, 10594

N. diseases: 70; N. variants: 12
Disease: Retinitis Pigmentosa 13 ×
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: rs121434236
rs121434236 		1.000 0.080 17 1650884 missense variant T/C;G snv
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2001 2007
dbSNP: rs121434238
rs121434238 		0.925 0.080 17 1650881 missense variant C/T snv
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2001 2007
dbSNP: rs121434239
rs121434239 		1.000 0.080 17 1650909 missense variant G/T snv
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2001 2007
dbSNP: rs121434240
rs121434240 		1.000 0.080 17 1650898 missense variant G/A;C snv 4.0E-06
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2001 2007
dbSNP: rs1555550617
rs1555550617 		0.925 0.080 17 1655533 missense variant C/T snv
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs387906971
rs387906971 		1.000 0.080 17 1653558 missense variant G/A snv
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0