ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Acute myocardial infarction ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751001
rs63751001
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0155626
Disease:
Acute myocardial infarction 		0.010 GeneticVariation BEFREE A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene. 16854481 2007
dbSNP: rs72653706
rs72653706
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0155626
Disease:
Acute myocardial infarction 		0.010 GeneticVariation BEFREE A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene. 16854481 2007