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: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 CausalMutation CLINVAR

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

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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

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

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

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

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

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151908
Disease: Dry skin
Dry skin 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0578038
Disease: Thin lips
Thin lips 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.720 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		G 0.720 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002