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.
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.776 0.360 11 533467 missense variant C/G;T snv 0.800 1.000 7 2005 2010
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
5 0.776 0.360 11 533467 missense variant C/G;T snv 0.010 1.000 1 2019 2019
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.776 0.360 11 533467 missense variant C/G;T snv 0.010 1.000 1 2017 2017