rs199422268, TERC

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 3 169764963 non coding transcript exon variant C/T snv 0.700 0
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
9 0.925 0.120 3 169764963 non coding transcript exon variant C/T snv 0.700 0