rs149914792
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs149914792(A;A) |
Make rs149914792(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 42399601 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs149914792 |
dbSNP (classic) | rs149914792 |
ClinGen | rs149914792 |
ebi | rs149914792 |
HLI | rs149914792 |
Exac | rs149914792 |
Gnomad | rs149914792 |
Varsome | rs149914792 |
LitVar | rs149914792 |
Map | rs149914792 |
PheGenI | rs149914792 |
Biobank | rs149914792 |
1000 genomes | rs149914792 |
hgdp | rs149914792 |
ensembl | rs149914792 |
geneview | rs149914792 |
scholar | rs149914792 |
rs149914792 | |
pharmgkb | rs149914792 |
gwascentral | rs149914792 |
openSNP | rs149914792 |
23andMe | rs149914792 |
SNPshot | rs149914792 |
SNPdbe | rs149914792 |
MSV3d | rs149914792 |
GWAS Ctlg | rs149914792 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149914792(A;A) |
Alt | rs149914792(A;A) |
Reference | Rs149914792(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.42691799G>A |
CLNSRC | |
CLNACC | RCV000297728.1, RCV000440492.1, |