Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs267606628(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position34792528
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs267606628
dbSNP (classic)rs267606628
ClinGenrs267606628
ebirs267606628
HLIrs267606628
Exacrs267606628
Gnomadrs267606628
Varsomers267606628
LitVarrs267606628
Maprs267606628
PheGenIrs267606628
Biobankrs267606628
1000 genomesrs267606628
hgdprs267606628
ensemblrs267606628
geneviewrs267606628
scholarrs267606628
googlers267606628
pharmgkbrs267606628
gwascentralrs267606628
openSNPrs267606628
23andMers267606628
SNPshotrs267606628
SNPdbers267606628
MSV3drs267606628
GWAS Ctlgrs267606628
Max Magnitude6.2
ClinVar
Risk rs267606628(G;G) rs267606628(T;T)
Alt rs267606628(G;G) rs267606628(T;T)
Reference Rs267606628(C;C)
Significance Pathogenic
Disease Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11
Variation info
Gene ACTC1 LOC101928174
CLNDBN Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11
Reversed 1
HGVS NC_000015.9:g.35084729G>A; NC_000015.9:g.35084729G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000463693.1, RCV000019995.27,