rs150518260
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs150518260(A;A) |
Make rs150518260(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 52029766 |
Gene | SGCB |
is a | snp |
is | mentioned by |
dbSNP | rs150518260 |
dbSNP (classic) | rs150518260 |
ClinGen | rs150518260 |
ebi | rs150518260 |
HLI | rs150518260 |
Exac | rs150518260 |
Gnomad | rs150518260 |
Varsome | rs150518260 |
LitVar | rs150518260 |
Map | rs150518260 |
PheGenI | rs150518260 |
Biobank | rs150518260 |
1000 genomes | rs150518260 |
hgdp | rs150518260 |
ensembl | rs150518260 |
geneview | rs150518260 |
scholar | rs150518260 |
rs150518260 | |
pharmgkb | rs150518260 |
gwascentral | rs150518260 |
openSNP | rs150518260 |
23andMe | rs150518260 |
SNPshot | rs150518260 |
SNPdbe | rs150518260 |
MSV3d | rs150518260 |
GWAS Ctlg | rs150518260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150518260(A;A) |
Alt | rs150518260(A;A) |
Reference | Rs150518260(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided Beta-sarcoglycanopathy |
Variation | info |
Gene | SGCB |
CLNDBN | Limb-girdle muscular dystrophy, type 2E not provided Beta-sarcoglycanopathy |
Reversed | 0 |
HGVS | NC_000004.11:g.52895932G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000177020.3, RCV000271872.1, RCV000340831.1, |