rs376107921
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376107921(A;A) |
Make rs376107921(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42399617 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs376107921 |
dbSNP (classic) | rs376107921 |
ClinGen | rs376107921 |
ebi | rs376107921 |
HLI | rs376107921 |
Exac | rs376107921 |
Gnomad | rs376107921 |
Varsome | rs376107921 |
LitVar | rs376107921 |
Map | rs376107921 |
PheGenI | rs376107921 |
Biobank | rs376107921 |
1000 genomes | rs376107921 |
hgdp | rs376107921 |
ensembl | rs376107921 |
geneview | rs376107921 |
scholar | rs376107921 |
rs376107921 | |
pharmgkb | rs376107921 |
gwascentral | rs376107921 |
openSNP | rs376107921 |
23andMe | rs376107921 |
SNPshot | rs376107921 |
SNPdbe | rs376107921 |
MSV3d | rs376107921 |
GWAS Ctlg | rs376107921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376107921(A;A) rs376107921(C;C) |
Alt | rs376107921(A;A) rs376107921(C;C) |
Reference | Rs376107921(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.42691815G>A |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000196140.1, RCV000201096.2, |