Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554038257
rs1554038257
TERT
0.925 0.040 5 1255333 frameshift variant GA/- delins
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs1554038257
rs1554038257
TERT
0.925 0.040 5 1255333 frameshift variant GA/- delins
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 0