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rs199474809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474809(A;A)
Make rs199474809(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110914290
GeneMYL2
is asnp
is mentioned by
dbSNPrs199474809
ebirs199474809
HLIrs199474809
Exacrs199474809
Varsomers199474809
Maprs199474809
PheGenIrs199474809
hapmaprs199474809
1000 genomesrs199474809
hgdprs199474809
ensemblrs199474809
gopubmedrs199474809
geneviewrs199474809
scholarrs199474809
googlers199474809
pharmgkbrs199474809
gwascentralrs199474809
openSNPrs199474809
23andMers199474809
23andMe allrs199474809
SNP Nexus

SNPshotrs199474809
SNPdbers199474809
MSV3drs199474809
GWAS Ctlgrs199474809
Max Magnitude0
ClinVar
Risk rs199474809(A;A)
Alt rs199474809(A;A)
Reference rs199474809(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000012.11:g.111352094C>T
CLNSRC ClinVar
CLNACC RCV000036384.3, RCV000119378.2,


[PMID 21823217OA-icon.png] Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.