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rs529700838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs529700838(A;A)
Make rs529700838(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position23419950
GeneMIR208B, MYH7
is asnp
is mentioned by
dbSNPrs529700838
dbSNP (classic)rs529700838
ClinGenrs529700838
ebirs529700838
HLIrs529700838
Exacrs529700838
Gnomadrs529700838
Varsomers529700838
LitVarrs529700838
Maprs529700838
PheGenIrs529700838
Biobankrs529700838
1000 genomesrs529700838
hgdprs529700838
ensemblrs529700838
geneviewrs529700838
scholarrs529700838
googlers529700838
pharmgkbrs529700838
gwascentralrs529700838
openSNPrs529700838
23andMers529700838
SNPshotrs529700838
SNPdbers529700838
MSV3drs529700838
GWAS Ctlgrs529700838
Max Magnitude0
ClinVar
Risk rs529700838(A;A) rs529700838(C;C) rs529700838(T;T)
Alt rs529700838(A;A) rs529700838(C;C) rs529700838(T;T)
Reference Rs529700838(G;G)
Significance Probable-Pathogenic
Disease not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy Laing distal myopathy Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy not provided
Variation info
Gene MYH7 MIR208B
CLNDBN not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Laing distal myopathy Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy not provided
Reversed 0
HGVS NC_000014.8:g.23889159G>A; NC_000014.8:g.23889159G>C
CLNSRC
CLNACC RCV000126995.2, RCV000233427.2, RCV000265099.1, RCV000301315.1, RCV000305006.1, RCV000353951.1, RCV000362075.1, RCV000480443.1,