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: rs1057519823
rs1057519823
MAP2K1
15 66481830 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 2 2009 2013
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: rs1057519820
rs1057519820
MAP2K1
15 66436810 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2009 2009
dbSNP: rs1057519821
rs1057519821
MAP2K1
15 66436814 missense variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2009 2009
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: rs1057519909
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C 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: 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: rs121908596
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2008 2008