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 RECESSIVE 5
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
40 0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05 0.800 1.000 6 2013 2017
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05 0.700 1.000 3 2013 2014