Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750566714
rs750566714
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658

2011
dbSNP: rs750566714
rs750566714
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358

2007
dbSNP: rs750566714
rs750566714
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344

1999