POLR1D, RNA polymerase I and III subunit D, 51082

N. diseases: 84; N. variants: 18
Disease: TREACHER COLLINS SYNDROME 2 ×
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: rs1014369151
rs1014369151 		1.000 13 27623014 missense variant C/T snv
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 0
dbSNP: rs587777841
rs587777841 		1.000 13 27623011 missense variant C/G snv
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 0
dbSNP: rs767196650
rs767196650 		1.000 13 27622987 missense variant G/A snv 4.0E-06
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 0