Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs876657651
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 2 2014 2016
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2008 2008
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs869025608
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs797044593
rs797044593
MAP2K1
0.925 0.160 15 66436759 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs730880502
rs730880502
MAP2K1
15 66436762 missense variant T/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 2 2009 2013
dbSNP: rs727504317
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 5 2007 2014
dbSNP: rs727504317
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2007 2012
dbSNP: rs727504317
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.710 1.000 2 2007 2016
dbSNP: rs727504317
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 1.000 1 2007 2007
dbSNP: rs727504317
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs727504317
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs397516793
rs397516793
MAP2K1
0.925 0.160 15 66436842 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2002 2017
dbSNP: rs397516793
rs397516793
MAP2K1
0.925 0.160 15 66436842 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 6 2006 2018
dbSNP: rs397516792
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 6 2007 2017
dbSNP: rs397516792
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 4 2009 2015
dbSNP: rs397516792
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016