Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761033636
Entrez Id: 64175;79078
Gene Symbol: P3H1;C1orf50
CUI: C0029434
Osteogenesis Imperfecta
0.010 GeneticVariation BEFREE Targeted next-generation sequencing of genes associated with OI in humans (COL1A1, COL1A2, LEPRE1, SERPINH1, and CRTAP) revealed a G>A heterozygous mutation in the splice donor site of exon 18 of the COL1A2 gene (c.936 + 1G>A). 29036614 2018