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: rs397516789
rs397516789
MAP2K1
1.000 0.160 15 66435070 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1057519728
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011
dbSNP: rs1057519728
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
0.851 0.120 15 66435103 missense variant T/A;C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121908594
rs121908594
MAP2K1
0.925 0.160 15 66435104 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs121908594
rs121908594
MAP2K1
0.925 0.160 15 66435104 missense variant T/C snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.800 1.000 0 2006 2008
dbSNP: rs1057519908
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.720 1.000 3 1995 2016
dbSNP: rs1057519729
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2009 2013
dbSNP: rs397516790
rs397516790
MAP2K1
0.925 0.200 15 66435115 missense variant A/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 2 2008 2010
dbSNP: rs397516790
rs397516790
MAP2K1
0.925 0.200 15 66435115 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
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: 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