Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555937398
rs1555937398
POLR2F ; SOX10
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		C 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415

2018