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: rs387907230
rs387907230
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: rs387907228
rs387907228
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		A 0.800 CausalMutation CLINVAR

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

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

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

dbSNP: rs761784169
rs761784169
ABCC9 ; LOC105369689
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs761784169
rs761784169
ABCC9 ; LOC105369689
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs761784169
rs761784169
ABCC9 ; LOC105369689
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs387907208
rs387907208
ABCC9
CUI: C1843367
Disease: Poor school performance
Poor school performance 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387907208
rs387907208
ABCC9
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387907208
rs387907208
ABCC9
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387907208
rs387907208
ABCC9
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		A 0.700 CausalMutation CLINVAR

dbSNP: rs193922683
rs193922683
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1565477732
rs1565477732
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		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: rs12298510
rs12298510
ABCC9 ; LOC105369689
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909304
rs121909304
ABCC9 ; LOC105369689
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004