Source: UNIPROT

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