Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434596
rs121434596
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434596
rs121434596
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
T 0.800 CausalMutation CLINVAR

dbSNP: rs121434596
rs121434596
CUI: C0027651
Disease: Neoplasms
Neoplasms
A 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
T 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

dbSNP: rs121434596
rs121434596
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
A 0.700 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
T 0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121434596
rs121434596
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
Transitional cell carcinoma of bladder
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
G 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
A 0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
A 0.700 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
T 0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs121434596
rs121434596
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
A 0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983

2005

dbSNP: rs121434596
rs121434596
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
T 0.700 CausalMutation CLINVAR BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. 18375819

2008

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
A 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
G 0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs121434596
rs121434596
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
G 0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983

2005

dbSNP: rs121434596
rs121434596
CUI: C0025202
Disease: melanoma
melanoma
G 0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994