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rs199474721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474721(C;T)
Make rs199474721(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position1933736
GeneTNNT3
is asnp
is mentioned by
dbSNPrs199474721
dbSNP (classic)rs199474721
ClinGenrs199474721
ebirs199474721
HLIrs199474721
Exacrs199474721
Gnomadrs199474721
Varsomers199474721
LitVarrs199474721
Maprs199474721
PheGenIrs199474721
Biobankrs199474721
1000 genomesrs199474721
hgdprs199474721
ensemblrs199474721
geneviewrs199474721
scholarrs199474721
googlers199474721
pharmgkbrs199474721
gwascentralrs199474721
openSNPrs199474721
23andMers199474721
SNPshotrs199474721
SNPdbers199474721
MSV3drs199474721
GWAS Ctlgrs199474721
Max Magnitude0
ClinVar
Risk rs199474721(T;T)
Alt rs199474721(T;T)
Reference Rs199474721(C;C)
Significance Pathogenic
Disease not provided Arthyrgryposis
Variation info
Gene TNNT3
CLNDBN not provided Arthyrgryposis, distal, type 2B
Reversed 0
HGVS NC_000011.9:g.1954966C>T
CLNSRC Leiden Muscular Dystrophy pages (TNNT3)
CLNACC RCV000024570.1, RCV000194279.1,