Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1026300967
rs1026300967
NTRK1
C 0.700 GeneticVariation CLINVAR Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 22302274

2012
dbSNP: rs1026300967
rs1026300967
NTRK1
C 0.700 GeneticVariation CLINVAR Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. 28940190

2017
dbSNP: rs1026300967
rs1026300967
NTRK1
C 0.700 GeneticVariation CLINVAR A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). 27676246

2017
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807

2011
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. 18474229

2008
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420

2013
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186

2017
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 18579827

2008
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144

2015
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR CoQ10 deficiency diseases in adults. 17485248

2007
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048

2014
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. 16116126

2005
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047

2015
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895

2007
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301

2012
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551

2011
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR Further delineation of cardiac abnormalities in Costello syndrome. 12210337

2002
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973

2012
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. 29073591

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. 28390077

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. 16155195

2006
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. 25914166

2015
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR HRAS and the Costello syndrome. 17250658

2007
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943

2008