Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008