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rs138049878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138049878(A;A)
Make rs138049878(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23424840
GeneMYH7
is asnp
is mentioned by
dbSNPrs138049878
dbSNP (classic)rs138049878
ClinGenrs138049878
ebirs138049878
HLIrs138049878
Exacrs138049878
Gnomadrs138049878
Varsomers138049878
LitVarrs138049878
Maprs138049878
PheGenIrs138049878
Biobankrs138049878
1000 genomesrs138049878
hgdprs138049878
ensemblrs138049878
geneviewrs138049878
scholarrs138049878
googlers138049878
pharmgkbrs138049878
gwascentralrs138049878
openSNPrs138049878
23andMers138049878
SNPshotrs138049878
SNPdbers138049878
MSV3drs138049878
GWAS Ctlgrs138049878
Max Magnitude0
ClinVar
Risk rs138049878(A;A)
Alt rs138049878(A;A)
Reference Rs138049878(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not specified not provided
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not specified not provided
Reversed 0
HGVS NC_000014.8:g.23894049G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000148707.1, RCV000154258.2, RCV000158554.1,