Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907100
rs387907100
PRPF6
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
PRPF6
T 0.800 CausalMutation CLINVAR