rs1057519806, MAP2K2

N. diseases: 3
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 0.882 0.200 19 4110583 missense variant T/C snv 0.710 1.000 1 2015 2015
melanoma
CUI: C0025202
Disease: melanoma
515 0.882 0.200 19 4110583 missense variant T/C snv 0.700 1.000 1 2014 2014
CARDIOFACIOCUTANEOUS SYNDROME 4
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
7 0.882 0.200 19 4110583 missense variant T/C snv 0.700 0