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: rs121434497
rs121434497
MAP2K2
0.925 0.160 19 4117552 missense variant A/C;T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 0 2006 2010
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 0 2006 2010
dbSNP: rs121434499
rs121434499
MAP2K2
0.925 0.160 19 4110559 missense variant A/G snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 0 2006 2010
dbSNP: rs267607230
rs267607230
MAP2K2
0.925 0.160 19 4110576 missense variant G/A;C;T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 0 2006 2010
dbSNP: rs1057519807
rs1057519807
MAP2K2
1.000 0.040 19 4110586 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2014 2014
dbSNP: rs1057519808
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2013 2014
dbSNP: rs1057519806
rs1057519806
MAP2K2
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.710 1.000 0 2015 2015
dbSNP: rs727504370
rs727504370
MAP2K2
0.925 0.200 19 4110558 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2007 2018
dbSNP: rs727504370
rs727504370
MAP2K2
0.925 0.200 19 4110558 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2007 2008
dbSNP: rs1057519806
rs1057519806
MAP2K2
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519809
rs1057519809
MAP2K2
1.000 0.040 19 4117586 missense variant G/A;C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519810
rs1057519810
MAP2K2
1.000 0.040 19 4117619 missense variant C/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519910
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/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: rs121434497
rs121434497
MAP2K2
0.925 0.160 19 4117552 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;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: rs121434499
rs121434499
MAP2K2
0.925 0.160 19 4110559 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs267607230
rs267607230
MAP2K2
0.925 0.160 19 4110576 missense variant G/A;C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs1057519806
rs1057519806
MAP2K2
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0