Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148276213
rs148276213
FAM20C
0.010 GeneticVariation BEFREE Further study conducted using Clinical Exome Sequencing identified a homozygous missense variation c.1228 T > A (p.Ser410Thr) in the exon 6 of FAM20C gene - a likely pathogenic variant that confirmed the clinical diagnosis of RS. 29751744

2018