Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907229
rs387907229
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		0.800 GeneticVariation UNIPROT Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
dbSNP: rs387907230
rs387907230
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		0.800 GeneticVariation UNIPROT Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
dbSNP: rs387907230
rs387907230
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		0.800 GeneticVariation UNIPROT Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
dbSNP: rs387907208
rs387907208
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907209
rs387907209
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907210
rs387907210
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387907228
rs387907228
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907229
rs387907229
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387907230
rs387907230
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs2307024
rs2307024
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0005612
Disease:
Birth Weight 		T 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs1517284
rs1517284
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1517284
rs1517284
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs387907209
rs387907209
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1837839
Disease:
CARDIOMYOPATHY, DILATED, 1O 		T 0.700 CausalMutation CLINVAR De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. 26871653 2017
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849367
Disease:
Nasal bridge wide 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0678230
Disease:
Congenital Epicanthus 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0019572
Disease:
Hirsutism 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0241240
Disease:
Tall stature 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C4054546
Disease:
Melanocortin 4 Receptor Deficiency 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0024433
Disease:
Macrostomia 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0013274
Disease:
Patent ductus arteriosus 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C2243051
Disease:
Large head (disorder) 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs139975827
rs139975827
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Genome-wide associations for birth weight and correlations with adult disease. 27680694 2016
dbSNP: rs1165205076
rs1165205076
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome 		0.700 GeneticVariation UNIPROT Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 26621776 2015
dbSNP: rs387907228
rs387907228
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1837839
Disease:
CARDIOMYOPATHY, DILATED, 1O 		A 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015