rs778768583
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs778768583(C;C) |
Make rs778768583(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42410958 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs778768583 |
dbSNP (classic) | rs778768583 |
ClinGen | rs778768583 |
ebi | rs778768583 |
HLI | rs778768583 |
Exac | rs778768583 |
Gnomad | rs778768583 |
Varsome | rs778768583 |
LitVar | rs778768583 |
Map | rs778768583 |
PheGenI | rs778768583 |
Biobank | rs778768583 |
1000 genomes | rs778768583 |
hgdp | rs778768583 |
ensembl | rs778768583 |
geneview | rs778768583 |
scholar | rs778768583 |
rs778768583 | |
pharmgkb | rs778768583 |
gwascentral | rs778768583 |
openSNP | rs778768583 |
23andMe | rs778768583 |
SNPshot | rs778768583 |
SNPdbe | rs778768583 |
MSV3d | rs778768583 |
GWAS Ctlg | rs778768583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778768583(C;C) |
Alt | rs778768583(C;C) |
Reference | Rs778768583(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | CAPN3 |
CLNDBN | Limb-girdle muscular dystrophy, type 2A not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.42703156G>C |
CLNSRC | |
CLNACC | RCV000176251.2, RCV000386470.1, |