rs370874727
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs370874727(A;G) |
Make rs370874727(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 71589591 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs370874727 |
dbSNP (classic) | rs370874727 |
ClinGen | rs370874727 |
ebi | rs370874727 |
HLI | rs370874727 |
Exac | rs370874727 |
Gnomad | rs370874727 |
Varsome | rs370874727 |
LitVar | rs370874727 |
Map | rs370874727 |
PheGenI | rs370874727 |
Biobank | rs370874727 |
1000 genomes | rs370874727 |
hgdp | rs370874727 |
ensembl | rs370874727 |
geneview | rs370874727 |
scholar | rs370874727 |
rs370874727 | |
pharmgkb | rs370874727 |
gwascentral | rs370874727 |
openSNP | rs370874727 |
23andMe | rs370874727 |
SNPshot | rs370874727 |
SNPdbe | rs370874727 |
MSV3d | rs370874727 |
GWAS Ctlg | rs370874727 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370874727(G;G) |
Alt | rs370874727(G;G) |
Reference | Rs370874727(A;A) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 |
Variation | info |
Gene | DYSF |
CLNDBN | Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.71816721A>G |
CLNSRC | |
CLNACC | RCV000177553.3, RCV000277199.2, |