Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909117
rs121909117
POLR2F ; SOX10
0.800 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658

2011
dbSNP: rs121909117
rs121909117
POLR2F ; SOX10
0.800 GeneticVariation UNIPROT A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. 18348274

2008
dbSNP: rs121909117
rs121909117
POLR2F ; SOX10
0.800 GeneticVariation UNIPROT SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 9462749

1998
dbSNP: rs121909117
rs121909117
POLR2F ; SOX10
A 0.800 CausalMutation CLINVAR