Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768607170
rs768607170
PAX2
0.010 GeneticVariation BEFREE The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome. 22350371

2012