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rs200631005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200631005(A;G)
Make rs200631005(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position236751561
GeneACTN2
is asnp
is mentioned by
dbSNPrs200631005
dbSNP (classic)rs200631005
ClinGenrs200631005
ebirs200631005
HLIrs200631005
Exacrs200631005
Gnomadrs200631005
Varsomers200631005
LitVarrs200631005
Maprs200631005
PheGenIrs200631005
Biobankrs200631005
1000 genomesrs200631005
hgdprs200631005
ensemblrs200631005
geneviewrs200631005
scholarrs200631005
googlers200631005
pharmgkbrs200631005
gwascentralrs200631005
openSNPrs200631005
23andMers200631005
SNPshotrs200631005
SNPdbers200631005
MSV3drs200631005
GWAS Ctlgrs200631005
Max Magnitude0
ClinVar
Risk rs200631005(C;C) rs200631005(G;G)
Alt rs200631005(C;C) rs200631005(G;G)
Reference Rs200631005(A;A)
Significance Other
Disease not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene ACTN2
CLNDBN not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 0
HGVS NC_000001.10:g.236914861A>G
CLNSRC
CLNACC RCV000183264.3, RCV000234704.2, RCV000241991.1,