rs121918664, TERT

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.
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
20 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.700 1.000 5 2005 2012
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
Severe Aplastic Anemia
CUI: C1883018
Disease: Severe Aplastic Anemia
4 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017