rs199474721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199474721(C;T) |
Make rs199474721(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 1933736 |
Gene | TNNT3 |
is a | snp |
is | mentioned by |
dbSNP | rs199474721 |
dbSNP (classic) | rs199474721 |
ClinGen | rs199474721 |
ebi | rs199474721 |
HLI | rs199474721 |
Exac | rs199474721 |
Gnomad | rs199474721 |
Varsome | rs199474721 |
LitVar | rs199474721 |
Map | rs199474721 |
PheGenI | rs199474721 |
Biobank | rs199474721 |
1000 genomes | rs199474721 |
hgdp | rs199474721 |
ensembl | rs199474721 |
geneview | rs199474721 |
scholar | rs199474721 |
rs199474721 | |
pharmgkb | rs199474721 |
gwascentral | rs199474721 |
openSNP | rs199474721 |
23andMe | rs199474721 |
SNPshot | rs199474721 |
SNPdbe | rs199474721 |
MSV3d | rs199474721 |
GWAS Ctlg | rs199474721 |
Max Magnitude | 0 |
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, |