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.
Genetic Diseases, Inborn
CUI: C0950123
Disease: Genetic Diseases, Inborn
827 0.846 0.214 12 25245370 missense variant T/A,C,G snp 4.0E-06 0.700 15 2006 2016
CARDIOFACIOCUTANEOUS SYNDROME 2
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
8 0.846 0.214 12 25245370 missense variant T/A,C,G snp 4.0E-06 0.700 2 2007 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
129 0.846 0.214 12 25245370 missense variant T/A,C,G snp 4.0E-06 0.700 2 2007 2011
GASTRIC CANCER, INTESTINAL
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
14 0.846 0.214 12 25245370 missense variant T/A,C,G snp 4.0E-06 0.700 1 2003 2003
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
364 0.846 0.214 12 25245370 missense variant T/A,C,G snp 4.0E-06 0.700 1 2003 2003