POLR2F, RNA polymerase II subunit F, 5435

N. diseases: 30; N. variants: 47
Disease: WAARDENBURG SYNDROME, TYPE IIE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569169289
rs1569169289
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		A 0.700 CausalMutation CLINVAR