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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
ebirs34396614
HLIrs34396614
Exacrs34396614
Varsomers34396614
Maprs34396614
PheGenIrs34396614
hapmaprs34396614
1000 genomesrs34396614
hgdprs34396614
ensemblrs34396614
gopubmedrs34396614
geneviewrs34396614
scholarrs34396614
googlers34396614
pharmgkbrs34396614
gwascentralrs34396614
openSNPrs34396614
23andMers34396614
23andMe allrs34396614
SNP Nexus

SNPshotrs34396614
SNPdbers34396614
MSV3drs34396614
GWAS Ctlgrs34396614
GMAF0.01377
Max Magnitude0
ClinVar
Risk rs34396614(G,T;G,T)
Alt rs34396614(G,T;G,T)
Reference rs34396614(C;C)
Significance Non-pathogenic
Disease Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYLK2
CLNDBN Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1
Reversed 0
HGVS NC_000020.10:g.30408306C>G
CLNSRC ClinVar GeneDx LabCorp
CLNACC RCV000030331.3, RCV000039788.3, RCV000205159.2,


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

GET Evidence
MYLK2-P144A
aa_change Pro144Ala
aa_change_short P144A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0153403
summary