rs121908596, MAP2K1

N. diseases: 7
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 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
Coarse features
CUI: C0424492
Disease: Coarse features
2 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
Macroglossia
CUI: C0024421
Disease: Macroglossia
2 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
melanoma
CUI: C0025202
Disease: melanoma
515 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2009 2009
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
CARDIOFACIOCUTANEOUS SYNDROME 3
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
8 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 0