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: 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: 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: rs1057519820
rs1057519820
MAP2K1
15 66436810 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2009 2009
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: 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: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.720 1.000 13 2006 2018
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2002 2017
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.800 1.000 1 2006 2008
dbSNP: rs797044593
rs797044593
MAP2K1
0.925 0.160 15 66436759 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
0.882 0.160 15 66436818 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
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