rs1057516741
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAAC;TAAC) | 0 | common in clinvar |
Make rs1057516741(-;-) |
Make rs1057516741(-;ACTA) |
Make rs1057516741(ACTA;ACTA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 99875240 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs1057516741 |
dbSNP (classic) | rs1057516741 |
ClinGen | rs1057516741 |
ebi | rs1057516741 |
HLI | rs1057516741 |
Exac | rs1057516741 |
Gnomad | rs1057516741 |
Varsome | rs1057516741 |
LitVar | rs1057516741 |
Map | rs1057516741 |
PheGenI | rs1057516741 |
Biobank | rs1057516741 |
1000 genomes | rs1057516741 |
hgdp | rs1057516741 |
ensembl | rs1057516741 |
geneview | rs1057516741 |
scholar | rs1057516741 |
rs1057516741 | |
pharmgkb | rs1057516741 |
gwascentral | rs1057516741 |
openSNP | rs1057516741 |
23andMe | rs1057516741 |
SNPshot | rs1057516741 |
SNPdbe | rs1057516741 |
MSV3d | rs1057516741 |
GWAS Ctlg | rs1057516741 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516741(-;-) |
Alt | rs1057516741(-;-) |
Reference | Rs1057516741(TAAC;TAAC) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease type III |
Variation | info |
Gene | AGL |
CLNDBN | Glycogen storage disease type III |
Reversed | 0 |
HGVS | NC_000001.10:g.100340796_100340799delACTA |
CLNSRC | |
CLNACC | RCV000409510.1, |