POLR2F, RNA polymerase II subunit F, 5435

N. diseases: 30; N. variants: 47
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569167607
rs1569167607
1.000 0.040 22 37973727 stop gained G/C snv
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
Skin and Connective Tissue Diseases 0.700 0