rs189923208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs189923208(A;A) |
Make rs189923208(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 71551040 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs189923208 |
dbSNP (classic) | rs189923208 |
ClinGen | rs189923208 |
ebi | rs189923208 |
HLI | rs189923208 |
Exac | rs189923208 |
Gnomad | rs189923208 |
Varsome | rs189923208 |
LitVar | rs189923208 |
Map | rs189923208 |
PheGenI | rs189923208 |
Biobank | rs189923208 |
1000 genomes | rs189923208 |
hgdp | rs189923208 |
ensembl | rs189923208 |
geneview | rs189923208 |
scholar | rs189923208 |
rs189923208 | |
pharmgkb | rs189923208 |
gwascentral | rs189923208 |
openSNP | rs189923208 |
23andMe | rs189923208 |
SNPshot | rs189923208 |
SNPdbe | rs189923208 |
MSV3d | rs189923208 |
GWAS Ctlg | rs189923208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs189923208(A;A) |
Alt | rs189923208(A;A) |
Reference | Rs189923208(G;G) |
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.71778170G>A |
CLNSRC | |
CLNACC | RCV000260298.2, |