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rs121908107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908107(C;T)
Make rs121908107(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position31820333
GeneMYLK2
is asnp
is mentioned by
dbSNPrs121908107
dbSNP (classic)rs121908107
ClinGenrs121908107
ebirs121908107
HLIrs121908107
Exacrs121908107
Gnomadrs121908107
Varsomers121908107
LitVarrs121908107
Maprs121908107
PheGenIrs121908107
Biobankrs121908107
1000 genomesrs121908107
hgdprs121908107
ensemblrs121908107
geneviewrs121908107
scholarrs121908107
googlers121908107
pharmgkbrs121908107
gwascentralrs121908107
openSNPrs121908107
23andMers121908107
SNPshotrs121908107
SNPdbers121908107
MSV3drs121908107
GWAS Ctlgrs121908107
GMAF0.0009183
Max Magnitude0
OMIM606566
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908107(T;T)
Alt rs121908107(T;T)
Reference Rs121908107(C;C)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYLK2
CLNDBN Cardiomyopathy, hypertrophic, midventricular, digenic
Reversed 0
HGVS NC_000020.10:g.30408136C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004465.2,