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: 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: 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: 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: 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: rs1057519731
rs1057519731
MAP2K1
0.925 0.040 15 66436816 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 4 2011 2014
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: 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: 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: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2009 2012
dbSNP: rs1057519733
rs1057519733
MAP2K1
1.000 0.040 15 66481793 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2009 2013
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: rs1057519730
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs1057519734
rs1057519734
MAP2K1
1.000 0.040 15 66485086 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs1057519805
rs1057519805
MAP2K1
1.000 0.040 15 66436839 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2009 2013
dbSNP: rs1057519823
rs1057519823
MAP2K1
15 66481830 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: 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: rs730880502
rs730880502
MAP2K1
15 66436762 missense variant T/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 2 2009 2013
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: 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: rs1057519730
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2009 2009