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rs199920384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199920384(A;G)
Make rs199920384(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position236762612
GeneACTN2
is asnp
is mentioned by
dbSNPrs199920384
dbSNP (old)rs199920384
ClinGenrs199920384
ebirs199920384
HLIrs199920384
Exacrs199920384
Varsomers199920384
Maprs199920384
PheGenIrs199920384
Biobankrs199920384
1000 genomesrs199920384
hgdprs199920384
ensemblrs199920384
gopubmedrs199920384
geneviewrs199920384
scholarrs199920384
googlers199920384
pharmgkbrs199920384
gwascentralrs199920384
openSNPrs199920384
23andMers199920384
23andMe allrs199920384
SNP Nexus

SNPshotrs199920384
SNPdbers199920384
MSV3drs199920384
GWAS Ctlgrs199920384
Max Magnitude0
ClinVar
Risk rs199920384(G;G)
Alt rs199920384(G;G)
Reference Rs199920384(A;A)
Significance Probable-Pathogenic
Disease not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy
Variation info
Gene ACTN2
CLNDBN not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.236925912A>G
CLNSRC
CLNACC RCV000183279.3, RCV000472395.1,