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rs34396614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34396614(C;G)
Make rs34396614(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position31820503
GeneMYLK2
is asnp
is mentioned by
dbSNPrs34396614
dbSNP (classic)rs34396614
ClinGenrs34396614
ebirs34396614
HLIrs34396614
Exacrs34396614
Gnomadrs34396614
Varsomers34396614
LitVarrs34396614
Maprs34396614
PheGenIrs34396614
Biobankrs34396614
1000 genomesrs34396614
hgdprs34396614
ensemblrs34396614
geneviewrs34396614
scholarrs34396614
googlers34396614
pharmgkbrs34396614
gwascentralrs34396614
openSNPrs34396614
23andMers34396614
SNPshotrs34396614
SNPdbers34396614
MSV3drs34396614
GWAS Ctlgrs34396614
GMAF0.01377
Max Magnitude0
ClinVar
Risk rs34396614(G;G) rs34396614(T;T)
Alt rs34396614(G;G) rs34396614(T;T)
Reference Rs34396614(C;C)
Significance Non-pathogenic
Disease Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy
Variation info
Gene MYLK2
CLNDBN Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000020.10:g.30408306C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000030331.3, RCV000039788.3, RCV000205159.3, RCV000340253.1,


[PMID 17344846OA-icon.png] Patterns of somatic mutation in human cancer genomes.