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rs121434638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434638(A;A)
Make rs121434638(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position1933737
GeneTNNT3
is asnp
is mentioned by
dbSNPrs121434638
ebirs121434638
HLIrs121434638
Exacrs121434638
Varsomers121434638
Maprs121434638
PheGenIrs121434638
hapmaprs121434638
1000 genomesrs121434638
hgdprs121434638
ensemblrs121434638
gopubmedrs121434638
geneviewrs121434638
scholarrs121434638
googlers121434638
pharmgkbrs121434638
gwascentralrs121434638
openSNPrs121434638
23andMers121434638
23andMe allrs121434638
SNP Nexus

SNPshotrs121434638
SNPdbers121434638
MSV3drs121434638
GWAS Ctlgrs121434638
Max Magnitude0
OMIM600692
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434638(A;A)
Alt rs121434638(A;A)
Reference rs121434638(G;G)
Significance Pathogenic
Disease Distal arthrogryposis type 2B not provided Arthyrgryposis
Variation info
Gene TNNT3
CLNDBN Distal arthrogryposis type 2B not provided Arthyrgryposis, distal, type 2B
Reversed 0
HGVS NC_000011.9:g.1954967G>A
CLNSRC Leiden Muscular Dystrophy pages (TNNT3) OMIM Allelic Variant
CLNACC RCV000009468.3, RCV000024561.1, RCV000194919.1,


[PMID 12865991OA-icon.png] Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.

[PMID 19142688OA-icon.png] Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.