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rs267606629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs267606629(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position34790549
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs267606629
dbSNP (classic)rs267606629
ClinGenrs267606629
ebirs267606629
HLIrs267606629
Exacrs267606629
Gnomadrs267606629
Varsomers267606629
LitVarrs267606629
Maprs267606629
PheGenIrs267606629
Biobankrs267606629
1000 genomesrs267606629
hgdprs267606629
ensemblrs267606629
geneviewrs267606629
scholarrs267606629
googlers267606629
pharmgkbrs267606629
gwascentralrs267606629
openSNPrs267606629
23andMers267606629
SNPshotrs267606629
SNPdbers267606629
MSV3drs267606629
GWAS Ctlgrs267606629
Max Magnitude6.2
ClinVar
Risk rs267606629(C;C)
Alt rs267606629(C;C)
Reference Rs267606629(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 11
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Familial hypertrophic cardiomyopathy 11
Reversed 1
HGVS NC_000015.9:g.35082750C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019994.27,