DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: Pancytopenia ×
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: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs28936072
rs28936072 		0.851 0.200 X 154765472 missense variant T/C snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002