rs727504317, MAP2K1

N. diseases: 6
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.
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.807 0.320 15 66435145 missense variant G/A snv 0.710 1.000 3 2007 2016
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 5 2007 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 4 2007 2012
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 1 2019 2019
CARDIOFACIOCUTANEOUS SYNDROME 3
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
8 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 1 2007 2007
melanoma
CUI: C0025202
Disease: melanoma
515 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 1 2014 2014