rs886041387
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 17 |
Position | 50168518 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs886041387 |
dbSNP (classic) | rs886041387 |
ClinGen | rs886041387 |
ebi | rs886041387 |
HLI | rs886041387 |
Exac | rs886041387 |
Gnomad | rs886041387 |
Varsome | rs886041387 |
LitVar | rs886041387 |
Map | rs886041387 |
PheGenI | rs886041387 |
Biobank | rs886041387 |
1000 genomes | rs886041387 |
hgdp | rs886041387 |
ensembl | rs886041387 |
geneview | rs886041387 |
scholar | rs886041387 |
rs886041387 | |
pharmgkb | rs886041387 |
gwascentral | rs886041387 |
openSNP | rs886041387 |
23andMe | rs886041387 |
SNPshot | rs886041387 |
SNPdbe | rs886041387 |
MSV3d | rs886041387 |
GWAS Ctlg | rs886041387 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041387(-;-) |
Alt | rs886041387(-;-) |
Reference | Rs886041387(C;C) |
Significance | Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCA |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2D |
Reversed | 0 |
HGVS | NC_000017.10:g.48245879delC |
CLNSRC | |
CLNACC | RCV000312896.1, RCV000381858.1, |