Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907211
rs387907211
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease:
Cantu syndrome
A 0.810 CausalMutation CLINVAR
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: rs121909304
rs121909304
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C1837839
Disease:
CARDIOMYOPATHY, DILATED, 1O
T 0.700 CausalMutation CLINVAR
dbSNP: rs12298510
rs12298510
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C0795905
Disease:
Cantu syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555100687
rs1555100687
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0043202
Disease:
Wolff-Parkinson-White Syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555179320
rs1555179320
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C1837839
Disease:
CARDIOMYOPATHY, DILATED, 1O
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1565477732
rs1565477732
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922683
rs193922683
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0878544
Disease:
Cardiomyopathies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs387907208
rs387907208
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1837839
Disease:
CARDIOMYOPATHY, DILATED, 1O
A 0.700 CausalMutation CLINVAR
dbSNP: rs387907208
rs387907208
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C4025756
Disease:
Abnormal aortic morphology
A 0.700 CausalMutation CLINVAR
dbSNP: rs387907208
rs387907208
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1843367
Disease:
Poor school performance
A 0.700 CausalMutation CLINVAR
dbSNP: rs387907208
rs387907208
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0020555
Disease:
Hypertrichosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs761784169
rs761784169
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C0795905
Disease:
Cantu syndrome
CA 0.700 CausalMutation CLINVAR
dbSNP: rs761784169
rs761784169
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C1837839
Disease:
CARDIOMYOPATHY, DILATED, 1O
CA 0.700 CausalMutation CLINVAR
dbSNP: rs761784169
rs761784169
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C3279695
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 12
CA 0.700 CausalMutation CLINVAR
dbSNP: rs1555179320
rs1555179320
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267 1999
dbSNP: rs1555179320
rs1555179320
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267 1999
dbSNP: rs1555179320
rs1555179320
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C1849265
Disease:
Overgrowth
T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267 1999
dbSNP: rs1555179320
rs1555179320
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C1849265
Disease:
Overgrowth
T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
dbSNP: rs1555179320
rs1555179320
Entrez Id: 10060;105369689
Gene Symbol: ABCC9;LOC105369689
ABCC9;LOC105369689
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004