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: 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: 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: 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: 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
dbSNP: rs1057519731
rs1057519731
MAP2K1
0.925 0.040 15 66436816 missense variant G/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1057519735
rs1057519735
MAP2K1 ; SNAPC5
1.000 0.040 15 66490577 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011
dbSNP: rs1057519856
rs1057519856
MAP2K1
0.925 0.040 15 66436815 missense variant T/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2014 2014
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: rs1057519822
rs1057519822
MAP2K1
0.925 0.080 15 66481818 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: 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