rs886043962
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 17 |
Position | 50170165 |
Gene | SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs886043962 |
dbSNP (classic) | rs886043962 |
ClinGen | rs886043962 |
ebi | rs886043962 |
HLI | rs886043962 |
Exac | rs886043962 |
Gnomad | rs886043962 |
Varsome | rs886043962 |
LitVar | rs886043962 |
Map | rs886043962 |
PheGenI | rs886043962 |
Biobank | rs886043962 |
1000 genomes | rs886043962 |
hgdp | rs886043962 |
ensembl | rs886043962 |
geneview | rs886043962 |
scholar | rs886043962 |
rs886043962 | |
pharmgkb | rs886043962 |
gwascentral | rs886043962 |
openSNP | rs886043962 |
23andMe | rs886043962 |
SNPshot | rs886043962 |
SNPdbe | rs886043962 |
MSV3d | rs886043962 |
GWAS Ctlg | rs886043962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043962(-;-) |
Alt | rs886043962(-;-) |
Reference | Rs886043962(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCA |
CLNDBN | Limb-girdle muscular dystrophy, type 2D |
Reversed | 0 |
HGVS | NC_000017.10:g.48247526delC |
CLNSRC | |
CLNACC | RCV000390542.1, |