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rs121912673

From SNPedia

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


Make rs121912673(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position34791163
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs121912673
dbSNP (classic)rs121912673
ClinGenrs121912673
ebirs121912673
HLIrs121912673
Exacrs121912673
Gnomadrs121912673
Varsomers121912673
LitVarrs121912673
Maprs121912673
PheGenIrs121912673
Biobankrs121912673
1000 genomesrs121912673
hgdprs121912673
ensemblrs121912673
geneviewrs121912673
scholarrs121912673
googlers121912673
pharmgkbrs121912673
gwascentralrs121912673
openSNPrs121912673
23andMers121912673
SNPshotrs121912673
SNPdbers121912673
MSV3drs121912673
GWAS Ctlgrs121912673
Max Magnitude6.2
OMIM102540
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912673(A;A)
Alt rs121912673(A;A)
Reference Rs121912673(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1R not provided
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Dilated cardiomyopathy 1R not provided
Reversed 1
HGVS NC_000015.9:g.35083364C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019988.26, RCV000489472.1,