rs863224959
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224959(C;T) |
Make rs863224959(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42402971 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs863224959 |
dbSNP (classic) | rs863224959 |
ClinGen | rs863224959 |
ebi | rs863224959 |
HLI | rs863224959 |
Exac | rs863224959 |
Gnomad | rs863224959 |
Varsome | rs863224959 |
LitVar | rs863224959 |
Map | rs863224959 |
PheGenI | rs863224959 |
Biobank | rs863224959 |
1000 genomes | rs863224959 |
hgdp | rs863224959 |
ensembl | rs863224959 |
geneview | rs863224959 |
scholar | rs863224959 |
rs863224959 | |
pharmgkb | rs863224959 |
gwascentral | rs863224959 |
openSNP | rs863224959 |
23andMe | rs863224959 |
SNPshot | rs863224959 |
SNPdbe | rs863224959 |
MSV3d | rs863224959 |
GWAS Ctlg | rs863224959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224959(T;T) |
Alt | rs863224959(T;T) |
Reference | Rs863224959(C;C) |
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.42695169C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000201202.2, |