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: 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: 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: 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: 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: 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: 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