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rs730880872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6.2 Familial Hypertrophic Cardiomyopathy
(T;T) 0 common in clinvar
Make rs730880872(C;C)
Make rs730880872(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23428962
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880872
dbSNP (classic)rs730880872
ClinGenrs730880872
ebirs730880872
HLIrs730880872
Exacrs730880872
Gnomadrs730880872
Varsomers730880872
LitVarrs730880872
Maprs730880872
PheGenIrs730880872
Biobankrs730880872
1000 genomesrs730880872
hgdprs730880872
ensemblrs730880872
geneviewrs730880872
scholarrs730880872
googlers730880872
pharmgkbrs730880872
gwascentralrs730880872
openSNPrs730880872
23andMers730880872
SNPshotrs730880872
SNPdbers730880872
MSV3drs730880872
GWAS Ctlgrs730880872
Max Magnitude6.2
ClinVar
Risk rs730880872(C;C)
Alt rs730880872(C;C)
Reference Rs730880872(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene MYH7
CLNDBN not provided
Reversed 1
HGVS NC_000014.8:g.23898171A>G
CLNSRC
CLNACC RCV000158802.2,