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rs727503504

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503504(C;G)
Make rs727503504(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position55154071
GeneTNNI3
is asnp
is mentioned by
dbSNPrs727503504
dbSNP (classic)rs727503504
ClinGenrs727503504
ebirs727503504
HLIrs727503504
Exacrs727503504
Gnomadrs727503504
Varsomers727503504
LitVarrs727503504
Maprs727503504
PheGenIrs727503504
Biobankrs727503504
1000 genomesrs727503504
hgdprs727503504
ensemblrs727503504
geneviewrs727503504
scholarrs727503504
googlers727503504
pharmgkbrs727503504
gwascentralrs727503504
openSNPrs727503504
23andMers727503504
SNPshotrs727503504
SNPdbers727503504
MSV3drs727503504
GWAS Ctlgrs727503504
Max Magnitude0
ClinVar
Risk rs727503504(G;G) rs727503504(T;T)
Alt rs727503504(G;G) rs727503504(T;T)
Reference Rs727503504(C;C)
Significance Pathogenic
Disease Familial restrictive cardiomyopathy Cardiomyopathy not provided Hypertrophic cardiomyopathy not specified Dilated cardiomyopathy 1FF Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Variation info
Gene TNNI3
CLNDBN Familial restrictive cardiomyopathy Cardiomyopathy, restrictive not provided Hypertrophic cardiomyopathy not specified Dilated cardiomyopathy 1FF Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Reversed 1
HGVS NC_000019.9:g.55665439G>A; NC_000019.9:g.55665439G>C
CLNSRC
CLNACC RCV000156074.2, RCV000157530.1, RCV000159231.4, RCV000456293.1, RCV000152077.1, RCV000197009.1,