rs587780362
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587780362(-;G) |
Make rs587780362(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 55698486 |
Gene | ITGA7 |
is a | snp |
is | mentioned by |
dbSNP | rs587780362 |
dbSNP (classic) | rs587780362 |
ClinGen | rs587780362 |
ebi | rs587780362 |
HLI | rs587780362 |
Exac | rs587780362 |
Gnomad | rs587780362 |
Varsome | rs587780362 |
LitVar | rs587780362 |
Map | rs587780362 |
PheGenI | rs587780362 |
Biobank | rs587780362 |
1000 genomes | rs587780362 |
hgdp | rs587780362 |
ensembl | rs587780362 |
geneview | rs587780362 |
scholar | rs587780362 |
rs587780362 | |
pharmgkb | rs587780362 |
gwascentral | rs587780362 |
openSNP | rs587780362 |
23andMe | rs587780362 |
SNPshot | rs587780362 |
SNPdbe | rs587780362 |
MSV3d | rs587780362 |
GWAS Ctlg | rs587780362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780362(G;G) |
Alt | rs587780362(G;G) |
Reference | Rs587780362(-;-) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | ITGA7 |
CLNDBN | Muscular dystrophy, congenital, due to ITGA7 deficiency |
Reversed | 1 |
HGVS | NC_000012.11:g.56092271dupC |
CLNSRC | |
CLNACC | RCV000117292.1, |