rs121918666, 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
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
20 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.800 1.000 5 2005 2012
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.700 0
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.700 0