rs397516790, MAP2K1

N. diseases: 2
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.
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.925 0.200 15 66435115 missense variant A/C;G snv 0.700 1.000 2 2008 2010
melanoma
CUI: C0025202
Disease: melanoma
515 0.925 0.200 15 66435115 missense variant A/C;G snv 0.700 1.000 1 2013 2013