Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777586
rs587777586
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4014656
Disease:
CARDIOMYOPATHY, DILATED, 1NN
0.800 GeneticVariation UNIPROT RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450 2014
dbSNP: rs587777587
rs587777587
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4014656
Disease:
CARDIOMYOPATHY, DILATED, 1NN
0.800 GeneticVariation UNIPROT RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450 2014
dbSNP: rs587777588
rs587777588
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4014656
Disease:
CARDIOMYOPATHY, DILATED, 1NN
0.800 GeneticVariation UNIPROT RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450 2014
dbSNP: rs2290159
rs2290159
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1445957
Disease:
Serum total cholesterol measurement
C 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs2290159
rs2290159
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1445957
Disease:
Serum total cholesterol measurement
C 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs2290159
rs2290159
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1445957
Disease:
Serum total cholesterol measurement
C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs2290159
rs2290159
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1445957
Disease:
Serum total cholesterol measurement
C 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
dbSNP: rs80338799
rs80338799
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007