rs121918665, TERT

N. diseases: 2
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.
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
16 0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06 0.800 1.000 3 2005 2011
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06 0.700 0