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 0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.700 1.000 4 2013 2017
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
15 0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.700 1.000 4 2013 2017
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.700 1.000 1 2013 2013
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
CUI: C3808802
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
2 0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.700 0