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 0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06 0.800 1.000 8 2009 2016
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
15 0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06 0.700 1.000 5 2009 2016
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06 0.700 1.000 2 2013 2013