rs141137410
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141137410(G;T) |
Make rs141137410(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 71664407 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs141137410 |
dbSNP (classic) | rs141137410 |
ClinGen | rs141137410 |
ebi | rs141137410 |
HLI | rs141137410 |
Exac | rs141137410 |
Gnomad | rs141137410 |
Varsome | rs141137410 |
LitVar | rs141137410 |
Map | rs141137410 |
PheGenI | rs141137410 |
Biobank | rs141137410 |
1000 genomes | rs141137410 |
hgdp | rs141137410 |
ensembl | rs141137410 |
geneview | rs141137410 |
scholar | rs141137410 |
rs141137410 | |
pharmgkb | rs141137410 |
gwascentral | rs141137410 |
openSNP | rs141137410 |
23andMe | rs141137410 |
SNPshot | rs141137410 |
SNPdbe | rs141137410 |
MSV3d | rs141137410 |
GWAS Ctlg | rs141137410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141137410(T;T) |
Alt | rs141137410(T;T) |
Reference | Rs141137410(G;G) |
Significance | Probable-Pathogenic |
Disease | Miyoshi myopathy Limb-Girdle Muscular Dystrophy not specified not provided |
Variation | info |
Gene | DYSF |
CLNDBN | Miyoshi myopathy Limb-Girdle Muscular Dystrophy, Recessive not specified not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.71891537G>T |
CLNSRC | |
CLNACC | RCV000310014.1, RCV000362344.1, RCV000388999.1, RCV000493108.1, |