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rs727503512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503512(C;G)
Make rs727503512(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position201363349
GeneTNNT2
is asnp
is mentioned by
dbSNPrs727503512
dbSNP (classic)rs727503512
ClinGenrs727503512
ebirs727503512
HLIrs727503512
Exacrs727503512
Gnomadrs727503512
Varsomers727503512
LitVarrs727503512
Maprs727503512
PheGenIrs727503512
Biobankrs727503512
1000 genomesrs727503512
hgdprs727503512
ensemblrs727503512
geneviewrs727503512
scholarrs727503512
googlers727503512
pharmgkbrs727503512
gwascentralrs727503512
openSNPrs727503512
23andMers727503512
SNPshotrs727503512
SNPdbers727503512
MSV3drs727503512
GWAS Ctlgrs727503512
Max Magnitude0
ClinVar
Risk rs727503512(G;G) rs727503512(T;T)
Alt rs727503512(G;G) rs727503512(T;T)
Reference Rs727503512(C;C)
Significance Pathogenic
Disease Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 not specified
Variation info
Gene TNNT2
CLNDBN Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 not specified
Reversed 1
HGVS NC_000001.10:g.201332477G>A; NC_000001.10:g.201332477G>C
CLNSRC
CLNACC RCV000223622.1, RCV000223699.1, RCV000474826.1, RCV000152100.1,