rs121913004
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6.5 | Myofibrillar Myopathy |
Make rs121913004(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 219421482 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs121913004 |
dbSNP (classic) | rs121913004 |
ClinGen | rs121913004 |
ebi | rs121913004 |
HLI | rs121913004 |
Exac | rs121913004 |
Gnomad | rs121913004 |
Varsome | rs121913004 |
LitVar | rs121913004 |
Map | rs121913004 |
PheGenI | rs121913004 |
Biobank | rs121913004 |
1000 genomes | rs121913004 |
hgdp | rs121913004 |
ensembl | rs121913004 |
geneview | rs121913004 |
scholar | rs121913004 |
rs121913004 | |
pharmgkb | rs121913004 |
gwascentral | rs121913004 |
openSNP | rs121913004 |
23andMe | rs121913004 |
SNPshot | rs121913004 |
SNPdbe | rs121913004 |
MSV3d | rs121913004 |
GWAS Ctlg | rs121913004 |
Merged from | Rs28930075 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs121913004(C;C) |
Alt | rs121913004(C;C) |
Reference | Rs121913004(A;A) |
Significance | Pathogenic |
Disease | Myofibrillar myopathy 1 not provided |
Variation | info |
Gene | DES |
CLNDBN | Myofibrillar myopathy 1 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.220286204A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018324.24, RCV000056776.1, |