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rs483352835

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352835(C;T)
Make rs483352835(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position201362395
GeneTNNT2
is asnp
is mentioned by
dbSNPrs483352835
dbSNP (classic)rs483352835
ClinGenrs483352835
ebirs483352835
HLIrs483352835
Exacrs483352835
Gnomadrs483352835
Varsomers483352835
LitVarrs483352835
Maprs483352835
PheGenIrs483352835
Biobankrs483352835
1000 genomesrs483352835
hgdprs483352835
ensemblrs483352835
geneviewrs483352835
scholarrs483352835
googlers483352835
pharmgkbrs483352835
gwascentralrs483352835
openSNPrs483352835
23andMers483352835
SNPshotrs483352835
SNPdbers483352835
MSV3drs483352835
GWAS Ctlgrs483352835
Max Magnitude0
ClinVar
Risk rs483352835(T;T)
Alt rs483352835(T;T)
Reference Rs483352835(C;C)
Significance Probable-Pathogenic
Disease Dilated cardiomyopathy 1DD not specified not provided Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN Dilated cardiomyopathy 1DD not specified not provided Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Reversed 0
HGVS NC_000001.10:g.201331523C>T
CLNSRC
CLNACC RCV000119341.2, RCV000159305.2, RCV000223749.1, RCV000475521.1,