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rs121912676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912676(C;T)
Make rs121912676(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34793431
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs121912676
dbSNP (classic)rs121912676
ClinGenrs121912676
ebirs121912676
HLIrs121912676
Exacrs121912676
Gnomadrs121912676
Varsomers121912676
LitVarrs121912676
Maprs121912676
PheGenIrs121912676
Biobankrs121912676
1000 genomesrs121912676
hgdprs121912676
ensemblrs121912676
geneviewrs121912676
scholarrs121912676
googlers121912676
pharmgkbrs121912676
gwascentralrs121912676
openSNPrs121912676
23andMers121912676
SNPshotrs121912676
SNPdbers121912676
MSV3drs121912676
GWAS Ctlgrs121912676
Max Magnitude0
OMIM102540
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912676(T;T)
Alt rs121912676(T;T)
Reference Rs121912676(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 11 not specified
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Familial hypertrophic cardiomyopathy 11 not specified
Reversed 1
HGVS NC_000015.9:g.35085632G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019991.28, RCV000038323.3,