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rs730880781

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880781(C;C)
Make rs730880781(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23419949
GeneMIR208B, MYH7
is asnp
is mentioned by
dbSNPrs730880781
dbSNP (classic)rs730880781
ClinGenrs730880781
ebirs730880781
HLIrs730880781
Exacrs730880781
Gnomadrs730880781
Varsomers730880781
LitVarrs730880781
Maprs730880781
PheGenIrs730880781
Biobankrs730880781
1000 genomesrs730880781
hgdprs730880781
ensemblrs730880781
geneviewrs730880781
scholarrs730880781
googlers730880781
pharmgkbrs730880781
gwascentralrs730880781
openSNPrs730880781
23andMers730880781
SNPshotrs730880781
SNPdbers730880781
MSV3drs730880781
GWAS Ctlgrs730880781
Max Magnitude0
ClinVar
Risk rs730880781(A;A) rs730880781(C;C)
Alt rs730880781(A;A) rs730880781(C;C)
Reference Rs730880781(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7 MIR208B
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23889158C>T
CLNSRC
CLNACC RCV000208329.1,