RP9, RP9 pre-mRNA splicing factor, 6100

N. diseases: 54; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894039
rs104894039
Entrez Id: 6100
Gene Symbol: RP9
RP9
CUI: C1867300
Disease:
RETINITIS PIGMENTOSA 9
C 0.800 CausalMutation CLINVAR
dbSNP: rs104894039
rs104894039
Entrez Id: 6100
Gene Symbol: RP9
RP9
CUI: C1867300
Disease:
RETINITIS PIGMENTOSA 9
0.800 GeneticVariation UNIPROT Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 12032732 2002
dbSNP: rs104894037
rs104894037
Entrez Id: 6100
Gene Symbol: RP9
RP9
CUI: C1867300
Disease:
RETINITIS PIGMENTOSA 9
0.700 GeneticVariation UNIPROT Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 12032732 2002