Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202128397
rs202128397
CRB2
0.710 GeneticVariation BEFREE We report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp located in the 10th and 11th epidermal growth factor-like domains, respectively). 29473663

2018
dbSNP: rs202128397
rs202128397
CRB2
T 0.710 GeneticVariation CLINVAR