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rs727503500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503500(G;T)
Make rs727503500(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position55151899
GeneTNNI3
is asnp
is mentioned by
dbSNPrs727503500
dbSNP (classic)rs727503500
ClinGenrs727503500
ebirs727503500
HLIrs727503500
Exacrs727503500
Gnomadrs727503500
Varsomers727503500
LitVarrs727503500
Maprs727503500
PheGenIrs727503500
Biobankrs727503500
1000 genomesrs727503500
hgdprs727503500
ensemblrs727503500
geneviewrs727503500
scholarrs727503500
googlers727503500
pharmgkbrs727503500
gwascentralrs727503500
openSNPrs727503500
23andMers727503500
SNPshotrs727503500
SNPdbers727503500
MSV3drs727503500
GWAS Ctlgrs727503500
Max Magnitude0
ClinVar
Risk rs727503500(T;T)
Alt rs727503500(T;T)
Reference Rs727503500(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55663267C>A
CLNSRC
CLNACC RCV000152073.2,