rs1057516360
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTTT;GTTT) | 0 | common in clinvar |
Make rs1057516360(-;-) |
Make rs1057516360(-;GTTT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 52033455 |
Gene | SGCB |
is a | snp |
is | mentioned by |
dbSNP | rs1057516360 |
dbSNP (classic) | rs1057516360 |
ClinGen | rs1057516360 |
ebi | rs1057516360 |
HLI | rs1057516360 |
Exac | rs1057516360 |
Gnomad | rs1057516360 |
Varsome | rs1057516360 |
LitVar | rs1057516360 |
Map | rs1057516360 |
PheGenI | rs1057516360 |
Biobank | rs1057516360 |
1000 genomes | rs1057516360 |
hgdp | rs1057516360 |
ensembl | rs1057516360 |
geneview | rs1057516360 |
scholar | rs1057516360 |
rs1057516360 | |
pharmgkb | rs1057516360 |
gwascentral | rs1057516360 |
openSNP | rs1057516360 |
23andMe | rs1057516360 |
SNPshot | rs1057516360 |
SNPdbe | rs1057516360 |
MSV3d | rs1057516360 |
GWAS Ctlg | rs1057516360 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516360(-;-) |
Alt | rs1057516360(-;-) |
Reference | Rs1057516360(GTTT;GTTT) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCB |
CLNDBN | Limb-girdle muscular dystrophy, type 2E |
Reversed | 1 |
HGVS | NC_000004.11:g.52899621_52899624delAAAC |
CLNSRC | |
CLNACC | RCV000412246.1, |