rs1057517058
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGCAGCTGAGCAGT;AGCAGCTGAGCAGT) | 0 | common in clinvar |
Make rs1057517058(-;-) |
Make rs1057517058(-;AGCAGCTGAGCAGT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 64747292 |
Gene | PYGM, RASGRP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517058 |
dbSNP (classic) | rs1057517058 |
ClinGen | rs1057517058 |
ebi | rs1057517058 |
HLI | rs1057517058 |
Exac | rs1057517058 |
Gnomad | rs1057517058 |
Varsome | rs1057517058 |
LitVar | rs1057517058 |
Map | rs1057517058 |
PheGenI | rs1057517058 |
Biobank | rs1057517058 |
1000 genomes | rs1057517058 |
hgdp | rs1057517058 |
ensembl | rs1057517058 |
geneview | rs1057517058 |
scholar | rs1057517058 |
rs1057517058 | |
pharmgkb | rs1057517058 |
gwascentral | rs1057517058 |
openSNP | rs1057517058 |
23andMe | rs1057517058 |
SNPshot | rs1057517058 |
SNPdbe | rs1057517058 |
MSV3d | rs1057517058 |
GWAS Ctlg | rs1057517058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517058(-;-) |
Alt | rs1057517058(-;-) |
Reference | Rs1057517058(AGCAGCTGAGCAGT;AGCAGCTGAGCAGT) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | PYGM RASGRP2 |
CLNDBN | Glycogen storage disease, type V |
Reversed | 1 |
HGVS | NC_000011.9:g.64514764_64514777delACTGCTCAGCTGCT |
CLNSRC | |
CLNACC | RCV000411646.1, |