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rs200754249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200754249(A;A)
Make rs200754249(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position201368212
GeneTNNT2
is asnp
is mentioned by
dbSNPrs200754249
dbSNP (classic)rs200754249
ClinGenrs200754249
ebirs200754249
HLIrs200754249
Exacrs200754249
Gnomadrs200754249
Varsomers200754249
LitVarrs200754249
Maprs200754249
PheGenIrs200754249
Biobankrs200754249
1000 genomesrs200754249
hgdprs200754249
ensemblrs200754249
geneviewrs200754249
scholarrs200754249
googlers200754249
pharmgkbrs200754249
gwascentralrs200754249
openSNPrs200754249
23andMers200754249
SNPshotrs200754249
SNPdbers200754249
MSV3drs200754249
GWAS Ctlgrs200754249
Max Magnitude0
ClinVar
Risk rs200754249(A;A) rs200754249(T;T)
Alt rs200754249(A;A) rs200754249(T;T)
Reference Rs200754249(G;G)
Significance Other
Disease not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Reversed 0
HGVS NC_000001.10:g.201337340G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000036624.7, RCV000148900.1, RCV000149450.1, RCV000456645.1,