rs1060502990, 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, AUTOSOMAL DOMINANT 2
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
16 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0