rs199422294, TERT

N. diseases: 5
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.
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
20 0.827 0.160 5 1280216 missense variant C/T snv 0.700 1.000 1 2018 2018
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
16 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0