rs886043221
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 17 |
Position | 50168391 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs886043221 |
dbSNP (classic) | rs886043221 |
ClinGen | rs886043221 |
ebi | rs886043221 |
HLI | rs886043221 |
Exac | rs886043221 |
Gnomad | rs886043221 |
Varsome | rs886043221 |
LitVar | rs886043221 |
Map | rs886043221 |
PheGenI | rs886043221 |
Biobank | rs886043221 |
1000 genomes | rs886043221 |
hgdp | rs886043221 |
ensembl | rs886043221 |
geneview | rs886043221 |
scholar | rs886043221 |
rs886043221 | |
pharmgkb | rs886043221 |
gwascentral | rs886043221 |
openSNP | rs886043221 |
23andMe | rs886043221 |
SNPshot | rs886043221 |
SNPdbe | rs886043221 |
MSV3d | rs886043221 |
GWAS Ctlg | rs886043221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043221(T;T) |
Alt | rs886043221(T;T) |
Reference | Rs886043221(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.48245752C>T |
CLNSRC | |
CLNACC | RCV000403326.1, |