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.
X-Linked Dyskeratosis Congenita
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
33 0.925 0.120 X 154774650 missense variant G/A snv 0.700 1.000 10 1998 2014
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.925 0.120 X 154774650 missense variant G/A snv 0.700 0