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rs200530211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200530211(A;A)
Make rs200530211(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23416141
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs200530211
dbSNP (classic)rs200530211
ClinGenrs200530211
ebirs200530211
HLIrs200530211
Exacrs200530211
Gnomadrs200530211
Varsomers200530211
LitVarrs200530211
Maprs200530211
PheGenIrs200530211
Biobankrs200530211
1000 genomesrs200530211
hgdprs200530211
ensemblrs200530211
geneviewrs200530211
scholarrs200530211
googlers200530211
pharmgkbrs200530211
gwascentralrs200530211
openSNPrs200530211
23andMers200530211
SNPshotrs200530211
SNPdbers200530211
MSV3drs200530211
GWAS Ctlgrs200530211
Max Magnitude0
ClinVar
Risk rs200530211(A;A)
Alt rs200530211(A;A)
Reference Rs200530211(G;G)
Significance Probable-Pathogenic
Disease not specified not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN not specified not provided Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000014.8:g.23885350G>A
CLNSRC
CLNACC RCV000154606.2, RCV000172042.1, RCV000470391.1,