PRPF4, pre-mRNA processing factor 4, 9128

N. diseases: 51; N. variants: 3
Disease: RETINITIS PIGMENTOSA 70 ×
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: 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