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: rs121918665
rs121918665
TERT
0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		0.800 1.000 0 2005 2011
dbSNP: rs121918665
rs121918665
TERT
0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.700 0