rs199422300, TERT

N. diseases: 2
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.
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.925 0.120 5 1278687 frameshift variant A/- del 0.700 0
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
20 0.925 0.120 5 1278687 frameshift variant A/- del 0.700 0