Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893747
rs104893747
MITF
0.800 GeneticVariation UNIPROT EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341

2017
dbSNP: rs104893747
rs104893747
MITF
0.800 GeneticVariation UNIPROT The mutational spectrum in Waardenburg syndrome. 8589691

1995
dbSNP: rs104893747
rs104893747
MITF
C 0.800 CausalMutation CLINVAR