rs28936072, DKC1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
X-Linked Dyskeratosis Congenita
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
33 0.851 0.200 X 154765472 missense variant T/C snv 0.800 1.000 1 2011 2011
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.851 0.200 X 154765472 missense variant T/C snv 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.851 0.200 X 154765472 missense variant T/C snv 0.010 1.000 1 2002 2002
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.851 0.200 X 154765472 missense variant T/C snv 0.010 1.000 1 2002 2002