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rs397517071

From SNPedia

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


Make rs397517071(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position34792092
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs397517071
dbSNP (classic)rs397517071
ClinGenrs397517071
ebirs397517071
HLIrs397517071
Exacrs397517071
Gnomadrs397517071
Varsomers397517071
LitVarrs397517071
Maprs397517071
PheGenIrs397517071
Biobankrs397517071
1000 genomesrs397517071
hgdprs397517071
ensemblrs397517071
geneviewrs397517071
scholarrs397517071
googlers397517071
pharmgkbrs397517071
gwascentralrs397517071
openSNPrs397517071
23andMers397517071
SNPshotrs397517071
SNPdbers397517071
MSV3drs397517071
GWAS Ctlgrs397517071
Max Magnitude6.2
ClinVar
Risk rs397517071(C;C)
Alt rs397517071(C;C)
Reference Rs397517071(T;T)
Significance Probable-Pathogenic
Disease not specified not provided
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN not specified not provided
Reversed 1
HGVS NC_000015.9:g.35084293A>G
CLNSRC
CLNACC RCV000038340.2, RCV000157793.1,