Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894231
rs104894231
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917759
rs121917759
A 0.800 CausalMutation CLINVAR

dbSNP: rs35613389
rs35613389
CG 0.700 CausalMutation CLINVAR

dbSNP: rs398122808
rs398122808
ACCT 0.700 CausalMutation CLINVAR

dbSNP: rs398122809
rs398122809
CTCT 0.700 CausalMutation CLINVAR

dbSNP: rs587777239
rs587777239
GGTCCCGCATGGCGCTGTACTC 0.700 CausalMutation CLINVAR

dbSNP: rs727504747
rs727504747
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs104894229
rs104894229
0.900 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs104894230
rs104894230
0.840 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs104894228
rs104894228
0.830 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs104894226
rs104894226
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs104894227
rs104894227
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs121917758
rs121917758
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs121917759
rs121917759
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs104894229
rs104894229
0.900 GeneticVariation BEFREE Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. 18039947

2008

dbSNP: rs104894229
rs104894229
A 0.900 CausalMutation CLINVAR Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. 18039947

2008

dbSNP: rs104894229
rs104894229
T 0.900 CausalMutation CLINVAR Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. 18039947

2008

dbSNP: rs104894229
rs104894229
0.900 GeneticVariation UNIPROT Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. 18039947

2008

dbSNP: rs104894229
rs104894229
0.900 GeneticVariation BEFREE Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene. 26419841

2016

dbSNP: rs104894228
rs104894228
A 0.830 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012

dbSNP: rs121917759
rs121917759
A 0.800 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012

dbSNP: rs104894228
rs104894228
A 0.830 CausalMutation CLINVAR An unexpected new role of mutant Ras: perturbation of human embryonic development. 17211612

2007

dbSNP: rs730880460
rs730880460
0.020 GeneticVariation BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825

2017

dbSNP: rs730880460
rs730880460
0.020 GeneticVariation BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825

2017

dbSNP: rs104894229
rs104894229
T 0.900 CausalMutation CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973

2012