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rs730880930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs730880930(A;G)
Make rs730880930(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23427858
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880930
dbSNP (classic)rs730880930
ClinGenrs730880930
ebirs730880930
HLIrs730880930
Exacrs730880930
Gnomadrs730880930
Varsomers730880930
LitVarrs730880930
Maprs730880930
PheGenIrs730880930
Biobankrs730880930
1000 genomesrs730880930
hgdprs730880930
ensemblrs730880930
geneviewrs730880930
scholarrs730880930
googlers730880930
pharmgkbrs730880930
gwascentralrs730880930
openSNPrs730880930
23andMers730880930
SNPshotrs730880930
SNPdbers730880930
MSV3drs730880930
GWAS Ctlgrs730880930
Max Magnitude6.2
ClinVar
Risk rs730880930(C;C) rs730880930(G;G)
Alt rs730880930(C;C) rs730880930(G;G)
Reference Rs730880930(A;A)
Significance Pathogenic
Disease not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23897067T>C; NC_000014.8:g.23897067T>G
CLNSRC
CLNACC RCV000158890.1, RCV000205072.1,