Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607081
rs267607081
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658

2011
dbSNP: rs267607081
rs267607081
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. 19208381

2009
dbSNP: rs267607081
rs267607081
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. 15004559

2004
dbSNP: rs267607081
rs267607081
POLR2F ; SOX10
0.700 GeneticVariation UNIPROT Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. 10762540

2000
dbSNP: rs397515368
rs397515368
POLR2F ; SOX10
C 0.700 CausalMutation CLINVAR

dbSNP: rs397515371
rs397515371
POLR2F ; SOX10
G 0.700 CausalMutation CLINVAR

dbSNP: rs397515372
rs397515372
POLR2F ; SOX10
G 0.700 CausalMutation CLINVAR

dbSNP: rs74315516
rs74315516
POLR2F ; SOX10
C 0.700 CausalMutation CLINVAR

dbSNP: rs74315518
rs74315518
POLR2F ; SOX10
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315521
rs74315521
POLR2F ; SOX10
A 0.700 CausalMutation CLINVAR