RP9, RP9 pre-mRNA splicing factor, 6100

N. diseases: 54; N. variants: 2
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: rs104894039
rs104894039
1.000 0.080 7 33095391 missense variant T/C snv 6.4E-05 1.5E-04
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2002 2002
dbSNP: rs104894037
rs104894037
1.000 0.080 7 33096550 missense variant T/A snv
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2002 2002