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rs61688134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61688134(C;T)
Make rs61688134(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21864476
GeneABCC9
is asnp
is mentioned by
dbSNPrs61688134
dbSNP (old)rs61688134
ClinGenrs61688134
ebirs61688134
HLIrs61688134
Exacrs61688134
Gnomadrs61688134
Varsomers61688134
Maprs61688134
PheGenIrs61688134
Biobankrs61688134
1000 genomesrs61688134
hgdprs61688134
ensemblrs61688134
gopubmedrs61688134
geneviewrs61688134
scholarrs61688134
googlers61688134
pharmgkbrs61688134
gwascentralrs61688134
openSNPrs61688134
23andMers61688134
23andMe allrs61688134
SNP Nexus

SNPshotrs61688134
SNPdbers61688134
MSV3drs61688134
GWAS Ctlgrs61688134
GMAF0.00551
Max Magnitude0
ClinVar
Risk rs61688134(T;T)
Alt rs61688134(T;T)
Reference Rs61688134(C;C)
Significance Probable-non-pathogenic
Disease Cardiomyopathy not specified Myocardial infarction Dilated cardiomyopathy 1O Cardiovascular phenotype
Variation info
Gene ABCC9
CLNDBN Cardiomyopathy not specified Myocardial infarction Dilated cardiomyopathy 1O Cardiovascular phenotype
Reversed 0
HGVS NC_000012.11:g.22017410C>T
CLNSRC ClinVar GeneDx LabCorp
CLNACC RCV000029274.1, RCV000038600.4, RCV000172738.2, RCV000205535.2, RCV000251925.1,



GET Evidence
ABCC9-V734I
aa_change Val734Ile
aa_change_short V734I
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.00846827
summary Reported as a likely cause of myocardial infarction, as recorded in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000029274/). LabCorp's ClinVar submission cites Zimmerman et al (PMID: 20474083); Zimmerman et al in turn cite Minoretti et al 2006 (PMID: 16563363) as reporting increased risk of myocardial infarction (heart attack) for this variant. There seem to be no subsequent publications confirming this effect; even if true, it should be classified as a "risk factor" in ClinVar (rather than "pathogenic" or "likely pathogenic").