Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The road to resistance: EGFR mutation and cetuximab. 22310681

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD). 18186519

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation CLINVAR Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1. 22773810

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
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: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR The road to resistance: EGFR mutation and cetuximab. 22310681

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1854114
Disease: Short nose
Short nose 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016