SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE 4A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569167515
rs1569167515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1848519
Disease:
WAARDENBURG SYNDROME, TYPE 4A 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1569169328
rs1569169328
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1848519
Disease:
WAARDENBURG SYNDROME, TYPE 4A 		T 0.700 CausalMutation CLINVAR
dbSNP: rs74315521
rs74315521
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1848519
Disease:
WAARDENBURG SYNDROME, TYPE 4A 		0.010 GeneticVariation BEFREE We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X). 12447940 2002