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rs730880162

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs730880162(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position46859509
GeneMYL3
is asnp
is mentioned by
dbSNPrs730880162
dbSNP (classic)rs730880162
ClinGenrs730880162
ebirs730880162
HLIrs730880162
Exacrs730880162
Gnomadrs730880162
Varsomers730880162
LitVarrs730880162
Maprs730880162
PheGenIrs730880162
Biobankrs730880162
1000 genomesrs730880162
hgdprs730880162
ensemblrs730880162
geneviewrs730880162
scholarrs730880162
googlers730880162
pharmgkbrs730880162
gwascentralrs730880162
openSNPrs730880162
23andMers730880162
SNPshotrs730880162
SNPdbers730880162
MSV3drs730880162
GWAS Ctlgrs730880162
Max Magnitude6.2
ClinVar
Risk rs730880162(A;A) rs730880162(T;T)
Alt rs730880162(A;A) rs730880162(T;T)
Reference Rs730880162(G;G)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.46900999C>A; NC_000003.11:g.46900999C>T
CLNSRC
CLNACC RCV000158949.2, RCV000157372.1,