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rs4523540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4523540(A;A)
Make rs4523540(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201359639
GeneTNNT2
is asnp
is mentioned by
dbSNPrs4523540
dbSNP (classic)rs4523540
ClinGenrs4523540
ebirs4523540
HLIrs4523540
Exacrs4523540
Gnomadrs4523540
Varsomers4523540
LitVarrs4523540
Maprs4523540
PheGenIrs4523540
Biobankrs4523540
1000 genomesrs4523540
hgdprs4523540
ensemblrs4523540
geneviewrs4523540
scholarrs4523540
googlers4523540
pharmgkbrs4523540
gwascentralrs4523540
openSNPrs4523540
23andMers4523540
SNPshotrs4523540
SNPdbers4523540
MSV3drs4523540
GWAS Ctlgrs4523540
Max Magnitude0
? (A;A) (A;T) (T;T) 28


ClinVar
Risk rs4523540(A;A) rs4523540(C;C)
Alt rs4523540(A;A) rs4523540(C;C)
Reference Rs4523540(T;T)
Significance Probable-Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Reversed 0
HGVS NC_000001.10:g.201328767T>A; NC_000001.10:g.201328767T>C
CLNSRC
CLNACC RCV000159345.1, RCV000474789.1,