rs34094720, 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.
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 0.700 0
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
16 0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 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 0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 0.700 0