rs587780289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs587780289(-;-) |
Make rs587780289(-;CA) |
Make rs587780289(CA;CA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 42410610 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs587780289 |
dbSNP (classic) | rs587780289 |
ClinGen | rs587780289 |
ebi | rs587780289 |
HLI | rs587780289 |
Exac | rs587780289 |
Gnomad | rs587780289 |
Varsome | rs587780289 |
LitVar | rs587780289 |
Map | rs587780289 |
PheGenI | rs587780289 |
Biobank | rs587780289 |
1000 genomes | rs587780289 |
hgdp | rs587780289 |
ensembl | rs587780289 |
geneview | rs587780289 |
scholar | rs587780289 |
rs587780289 | |
pharmgkb | rs587780289 |
gwascentral | rs587780289 |
openSNP | rs587780289 |
23andMe | rs587780289 |
SNPshot | rs587780289 |
SNPdbe | rs587780289 |
MSV3d | rs587780289 |
GWAS Ctlg | rs587780289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780289(-;-) |
Alt | rs587780289(-;-) |
Reference | Rs587780289(AC;AC) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | CAPN3 |
CLNDBN | Limb-girdle muscular dystrophy, type 2A |
Reversed | 0 |
HGVS | NC_000015.9:g.42702808_42702809delCA |
CLNSRC | |
CLNACC | RCV000116541.1, |