rs121434591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434591(C;G) |
Make rs121434591(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 139307669 |
Gene | MATR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121434591 |
dbSNP (classic) | rs121434591 |
ClinGen | rs121434591 |
ebi | rs121434591 |
HLI | rs121434591 |
Exac | rs121434591 |
Gnomad | rs121434591 |
Varsome | rs121434591 |
LitVar | rs121434591 |
Map | rs121434591 |
PheGenI | rs121434591 |
Biobank | rs121434591 |
1000 genomes | rs121434591 |
hgdp | rs121434591 |
ensembl | rs121434591 |
geneview | rs121434591 |
scholar | rs121434591 |
rs121434591 | |
pharmgkb | rs121434591 |
gwascentral | rs121434591 |
openSNP | rs121434591 |
23andMe | rs121434591 |
SNPshot | rs121434591 |
SNPdbe | rs121434591 |
MSV3d | rs121434591 |
GWAS Ctlg | rs121434591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434591(G;G) |
Alt | rs121434591(G;G) |
Reference | Rs121434591(C;C) |
Significance | Other |
Disease | Myopathy |
Variation | info |
Gene | MATR3 |
CLNDBN | Myopathy, distal, 2 |
Reversed | 0 |
HGVS | NC_000005.9:g.138643358C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000015039.30, |
[PMID 19344878] Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.