rs199422295, TERT

N. diseases: 3
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.
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.882 0.120 5 1279376 missense variant C/T snv 0.700 0
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.882 0.120 5 1279376 missense variant C/T snv 0.700 0
Acquired aplastic anemia
CUI: C0271907
Disease: Acquired aplastic anemia
12 0.882 0.120 5 1279376 missense variant C/T snv 0.010 1.000 1 2006 2006