SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE IIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555937398
rs1555937398
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		C 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555938422
rs1555938422
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		A 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555939415
rs1555939415
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		G 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1555939564
rs1555939564
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		G 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018