rs57496341
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs57496341(G;G) |
Make rs57496341(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 219420943 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs57496341 |
dbSNP (classic) | rs57496341 |
ClinGen | rs57496341 |
ebi | rs57496341 |
HLI | rs57496341 |
Exac | rs57496341 |
Gnomad | rs57496341 |
Varsome | rs57496341 |
LitVar | rs57496341 |
Map | rs57496341 |
PheGenI | rs57496341 |
Biobank | rs57496341 |
1000 genomes | rs57496341 |
hgdp | rs57496341 |
ensembl | rs57496341 |
geneview | rs57496341 |
scholar | rs57496341 |
rs57496341 | |
pharmgkb | rs57496341 |
gwascentral | rs57496341 |
openSNP | rs57496341 |
23andMe | rs57496341 |
SNPshot | rs57496341 |
SNPdbe | rs57496341 |
MSV3d | rs57496341 |
GWAS Ctlg | rs57496341 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57496341(C;C) rs57496341(G;G) |
Alt | rs57496341(C;C) rs57496341(G;G) |
Reference | Rs57496341(T;T) |
Significance | Probable-Pathogenic |
Disease | Muscular dystrophy Myofibrillar myopathy 1 not provided |
Variation | info |
Gene | DES |
CLNDBN | Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.220285665T>C; NC_000002.11:g.220285665T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000227930.1, RCV000056763.1, |