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rs149433837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149433837(A;A)
Make rs149433837(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position236757492
GeneACTN2
is asnp
is mentioned by
dbSNPrs149433837
dbSNP (classic)rs149433837
ClinGenrs149433837
ebirs149433837
HLIrs149433837
Exacrs149433837
Gnomadrs149433837
Varsomers149433837
LitVarrs149433837
Maprs149433837
PheGenIrs149433837
Biobankrs149433837
1000 genomesrs149433837
hgdprs149433837
ensemblrs149433837
geneviewrs149433837
scholarrs149433837
googlers149433837
pharmgkbrs149433837
gwascentralrs149433837
openSNPrs149433837
23andMers149433837
SNPshotrs149433837
SNPdbers149433837
MSV3drs149433837
GWAS Ctlgrs149433837
Max Magnitude0
ClinVar
Risk rs149433837(A;A) rs149433837(T;T)
Alt rs149433837(A;A) rs149433837(T;T)
Reference Rs149433837(C;C)
Significance Probable-non-pathogenic
Disease not specified not provided Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene ACTN2
CLNDBN not specified not provided Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 0
HGVS NC_000001.10:g.236920792C>A; NC_000001.10:g.236920792C>T
CLNSRC
CLNACC RCV000154596.3, RCV000172516.1, RCV000231780.1, RCV000245171.1, RCV000183272.2,