rs1057519819, 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.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.240 15 66436750 missense variant T/C snv 0.700 1.000 1 2009 2009
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
Hypertrophic obstructive cardiomyopathy
90 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015