rs2303603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2303603(A;A) |
Make rs2303603(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 71600724 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs2303603 |
dbSNP (classic) | rs2303603 |
ClinGen | rs2303603 |
ebi | rs2303603 |
HLI | rs2303603 |
Exac | rs2303603 |
Gnomad | rs2303603 |
Varsome | rs2303603 |
LitVar | rs2303603 |
Map | rs2303603 |
PheGenI | rs2303603 |
Biobank | rs2303603 |
1000 genomes | rs2303603 |
hgdp | rs2303603 |
ensembl | rs2303603 |
geneview | rs2303603 |
scholar | rs2303603 |
rs2303603 | |
pharmgkb | rs2303603 |
gwascentral | rs2303603 |
openSNP | rs2303603 |
23andMe | rs2303603 |
SNPshot | rs2303603 |
SNPdbe | rs2303603 |
MSV3d | rs2303603 |
GWAS Ctlg | rs2303603 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2303603(A;A) |
Alt | rs2303603(A;A) |
Reference | Rs2303603(G;G) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | DYSF |
CLNDBN | Limb-girdle muscular dystrophy, type 2B |
Reversed | 0 |
HGVS | NC_000002.11:g.71827854G>A |
CLNSRC | |
CLNACC | RCV000326858.1, |