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: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959

2014
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551

2014
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. 23754335

2013
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017