Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503968
rs727503968
IQCB1
A 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. 26274329

2015
dbSNP: rs727503968
rs727503968
IQCB1
A 0.700 CausalMutation CLINVAR Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome. 24674142

2013
dbSNP: rs727503968
rs727503968
IQCB1
A 0.700 CausalMutation CLINVAR A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 19430481

2009