rs121918661, 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.
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
20 0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 0.800 1.000 5 2005 2012
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 0.700 1.000 4 2005 2009
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 0.700 0