rs121908595, MAP2K1

N. diseases: 8
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.
CARDIOFACIOCUTANEOUS SYNDROME 3
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.800 1.000 2 2006 2008
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.720 1.000 14 2006 2018
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 12 2002 2017
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
7 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
Constipation
CUI: C0009806
Disease: Constipation
57 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 0