PRPF31, pre-mRNA processing factor 31, 26121

N. diseases: 150; N. variants: 23
Disease: Autosomal dominant retinitis pigmentosa ×
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: rs119475042
rs119475042 		0.882 0.080 19 54123867 missense variant G/A;C snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2002 2002
dbSNP: rs119475043
rs119475043 		0.925 0.080 19 54123802 missense variant C/A;T snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2002 2002