rs863224961
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224961(G;T) |
Make rs863224961(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42409381 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs863224961 |
dbSNP (classic) | rs863224961 |
ClinGen | rs863224961 |
ebi | rs863224961 |
HLI | rs863224961 |
Exac | rs863224961 |
Gnomad | rs863224961 |
Varsome | rs863224961 |
LitVar | rs863224961 |
Map | rs863224961 |
PheGenI | rs863224961 |
Biobank | rs863224961 |
1000 genomes | rs863224961 |
hgdp | rs863224961 |
ensembl | rs863224961 |
geneview | rs863224961 |
scholar | rs863224961 |
rs863224961 | |
pharmgkb | rs863224961 |
gwascentral | rs863224961 |
openSNP | rs863224961 |
23andMe | rs863224961 |
SNPshot | rs863224961 |
SNPdbe | rs863224961 |
MSV3d | rs863224961 |
GWAS Ctlg | rs863224961 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224961(T;T) |
Alt | rs863224961(T;T) |
Reference | Rs863224961(G;G) |
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.42701579G>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201069.2, |