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: 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: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
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: rs121908596
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs397516791
rs397516791
MAP2K1
1.000 0.160 15 66435221 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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: 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: 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
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: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
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: rs1057519819
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2009 2009
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: 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