rs863225019
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs863225019(-;GGACTTGCCGCAGAG) |
Make rs863225019(GGACTTGCCGCAGAG;GGACTTGCCGCAGAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 71526347 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs863225019 |
dbSNP (classic) | rs863225019 |
ClinGen | rs863225019 |
ebi | rs863225019 |
HLI | rs863225019 |
Exac | rs863225019 |
Gnomad | rs863225019 |
Varsome | rs863225019 |
LitVar | rs863225019 |
Map | rs863225019 |
PheGenI | rs863225019 |
Biobank | rs863225019 |
1000 genomes | rs863225019 |
hgdp | rs863225019 |
ensembl | rs863225019 |
geneview | rs863225019 |
scholar | rs863225019 |
rs863225019 | |
pharmgkb | rs863225019 |
gwascentral | rs863225019 |
openSNP | rs863225019 |
23andMe | rs863225019 |
SNPshot | rs863225019 |
SNPdbe | rs863225019 |
MSV3d | rs863225019 |
GWAS Ctlg | rs863225019 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225019(GGACTTGCCGCAGAG;GGACTTGCCGCAGAG) |
Alt | rs863225019(GGACTTGCCGCAGAG;GGACTTGCCGCAGAG) |
Reference | Rs863225019(-;-) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | DYSF |
CLNDBN | Limb-girdle muscular dystrophy, type 2B |
Reversed | 0 |
HGVS | NC_000002.11:g.71753463_71753477dupGGACTTGCCGCAGAG |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201130.1, |