PRPF6, pre-mRNA processing factor 6, 24148

N. diseases: 76; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907100
rs387907100
Entrez Id: 24148
Gene Symbol: PRPF6
PRPF6
CUI: C3151434
Disease:
RETINITIS PIGMENTOSA 60 		0.800 GeneticVariation UNIPROT A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. 21549338 2011
dbSNP: rs387907100
rs387907100
Entrez Id: 24148
Gene Symbol: PRPF6
PRPF6
CUI: C3151434
Disease:
RETINITIS PIGMENTOSA 60 		T 0.800 CausalMutation CLINVAR
dbSNP: rs2427590
rs2427590
Entrez Id: 24148
Gene Symbol: PRPF6
PRPF6
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs527236096
rs527236096
Entrez Id: 24148
Gene Symbol: PRPF6
PRPF6
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR