PRPF4, pre-mRNA processing factor 4, 9128

N. diseases: 51; N. variants: 3
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: rs587777599
rs587777599 		0.925 0.080 9 113288183 missense variant C/T snv 8.0E-06
CUI: C4014681
Disease: RETINITIS PIGMENTOSA 70
RETINITIS PIGMENTOSA 70 		0.800 1.000 2 2014 2014
dbSNP: rs41296057
rs41296057 		0.925 0.080 9 113283400 missense variant G/A snv 2.1E-05
CUI: C4014681
Disease: RETINITIS PIGMENTOSA 70
RETINITIS PIGMENTOSA 70 		0.700 1.000 2 2014 2014
dbSNP: rs541873609
rs541873609 		1.000 9 113275630 5 prime UTR variant TGTCAGTGACGCACTTCC/-;TGTCAGTGACGCACTTCCTGTCAGTGACGCACTTCC delins 8.4E-05
CUI: C4014681
Disease: RETINITIS PIGMENTOSA 70
RETINITIS PIGMENTOSA 70 		0.700 0
dbSNP: rs41296057
rs41296057 		0.925 0.080 9 113283400 missense variant G/A snv 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777599
rs587777599 		0.925 0.080 9 113288183 missense variant C/T snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014