Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907211
rs387907211
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		A 0.810 CausalMutation CLINVAR

dbSNP: rs387907208
rs387907208
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387907209
rs387907209
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387907210
rs387907210
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387907227
rs387907227
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		T 0.800 CausalMutation CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013
dbSNP: rs387907227
rs387907227
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		T 0.800 CausalMutation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs387907228
rs387907228
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387907229
rs387907229
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs387907230
rs387907230
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1024095026
rs1024095026
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. 23103869

2012
dbSNP: rs1057516044
rs1057516044
ABCC9
CUI: C0795905
Disease: Cantu syndrome
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
ABCC9
CUI: C0019572
Disease: Hirsutism
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
ABCC9
CUI: C2243051
Disease: Large head (disorder)
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: rs1057516044
rs1057516044
ABCC9
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
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
ABCC9
CUI: C0241240
Disease: Tall stature
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
ABCC9
CUI: C0024433
Disease: Macrostomia
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
ABCC9
CUI: C0678230
Disease: Congenital Epicanthus
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
ABCC9
CUI: C0013274
Disease: Patent ductus arteriosus
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
ABCC9
CUI: C1849367
Disease: Nasal bridge wide
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: rs121909304
rs121909304
ABCC9 ; LOC105369689
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		T 0.700 CausalMutation CLINVAR

dbSNP: rs12298510
rs12298510
ABCC9 ; LOC105369689
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555100687
rs1555100687
ABCC9
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013