rs747809412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs747809412(A;A) |
Make rs747809412(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 52033589 |
Gene | SGCB |
is a | snp |
is | mentioned by |
dbSNP | rs747809412 |
dbSNP (classic) | rs747809412 |
ClinGen | rs747809412 |
ebi | rs747809412 |
HLI | rs747809412 |
Exac | rs747809412 |
Gnomad | rs747809412 |
Varsome | rs747809412 |
LitVar | rs747809412 |
Map | rs747809412 |
PheGenI | rs747809412 |
Biobank | rs747809412 |
1000 genomes | rs747809412 |
hgdp | rs747809412 |
ensembl | rs747809412 |
geneview | rs747809412 |
scholar | rs747809412 |
rs747809412 | |
pharmgkb | rs747809412 |
gwascentral | rs747809412 |
openSNP | rs747809412 |
23andMe | rs747809412 |
SNPshot | rs747809412 |
SNPdbe | rs747809412 |
MSV3d | rs747809412 |
GWAS Ctlg | rs747809412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747809412(A;A) |
Alt | rs747809412(A;A) |
Reference | Rs747809412(T;T) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCB |
CLNDBN | Limb-girdle muscular dystrophy, type 2E |
Reversed | 0 |
HGVS | NC_000004.11:g.52899755T>A |
CLNSRC | |
CLNACC | RCV000411828.1, |