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rs727504244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504244(A;A)
Make rs727504244(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201365627
GeneTNNT2
is asnp
is mentioned by
dbSNPrs727504244
dbSNP (classic)rs727504244
ClinGenrs727504244
ebirs727504244
HLIrs727504244
Exacrs727504244
Gnomadrs727504244
Varsomers727504244
LitVarrs727504244
Maprs727504244
PheGenIrs727504244
Biobankrs727504244
1000 genomesrs727504244
hgdprs727504244
ensemblrs727504244
geneviewrs727504244
scholarrs727504244
googlers727504244
pharmgkbrs727504244
gwascentralrs727504244
openSNPrs727504244
23andMers727504244
SNPshotrs727504244
SNPdbers727504244
MSV3drs727504244
GWAS Ctlgrs727504244
Max Magnitude0
ClinVar
Risk rs727504244(A;A)
Alt rs727504244(A;A)
Reference Rs727504244(G;G)
Significance Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene TNNT2
CLNDBN not specified Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000001.10:g.201334755C>T
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000154214.2, RCV000168964.2, RCV000225724.1,