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: rs199422294
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 1.000 1 2018 2018
dbSNP: rs199422294
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0
dbSNP: rs199422294
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs199422294
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 0