rs199474717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199474717(A;A) |
Make rs199474717(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 154170454 |
Gene | TPM3 |
is a | snp |
is | mentioned by |
dbSNP | rs199474717 |
dbSNP (classic) | rs199474717 |
ClinGen | rs199474717 |
ebi | rs199474717 |
HLI | rs199474717 |
Exac | rs199474717 |
Gnomad | rs199474717 |
Varsome | rs199474717 |
LitVar | rs199474717 |
Map | rs199474717 |
PheGenI | rs199474717 |
Biobank | rs199474717 |
1000 genomes | rs199474717 |
hgdp | rs199474717 |
ensembl | rs199474717 |
geneview | rs199474717 |
scholar | rs199474717 |
rs199474717 | |
pharmgkb | rs199474717 |
gwascentral | rs199474717 |
openSNP | rs199474717 |
23andMe | rs199474717 |
23andMe all | rs199474717 |
SNPshot | rs199474717 |
SNPdbe | rs199474717 |
MSV3d | rs199474717 |
GWAS Ctlg | rs199474717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474717(A;A) |
Alt | rs199474717(A;A) |
Reference | Rs199474717(G;G) |
Significance | Pathogenic |
Disease | Congenital myopathy with fiber type disproportion not provided |
Variation | info |
Gene | TPM3 |
CLNDBN | Congenital myopathy with fiber type disproportion not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.154142930C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000034944.1, RCV000128704.1, |
[PMID 19953533] Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.