rs201736037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201736037(A;G) |
Make rs201736037(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 42401721 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs201736037 |
dbSNP (classic) | rs201736037 |
ClinGen | rs201736037 |
ebi | rs201736037 |
HLI | rs201736037 |
Exac | rs201736037 |
Gnomad | rs201736037 |
Varsome | rs201736037 |
LitVar | rs201736037 |
Map | rs201736037 |
PheGenI | rs201736037 |
Biobank | rs201736037 |
1000 genomes | rs201736037 |
hgdp | rs201736037 |
ensembl | rs201736037 |
geneview | rs201736037 |
scholar | rs201736037 |
rs201736037 | |
pharmgkb | rs201736037 |
gwascentral | rs201736037 |
openSNP | rs201736037 |
23andMe | rs201736037 |
SNPshot | rs201736037 |
SNPdbe | rs201736037 |
MSV3d | rs201736037 |
GWAS Ctlg | rs201736037 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201736037(G;G) |
Alt | rs201736037(G;G) |
Reference | Rs201736037(A;A) |
Significance | Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy CAPN3-Related Disorders |
Variation | info |
Gene | CAPN3 |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2A CAPN3-Related Disorders |
Reversed | 0 |
HGVS | NC_000015.9:g.42693919A>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078086.4, RCV000280277.1, RCV000331519.1, |