rs431905502
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAA;GAA) | 0 | common in clinvar |
Make rs431905502(-;-) |
Make rs431905502(-;AAG) |
Make rs431905502(AAG;AAG) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 78118103 |
Gene | PGK1 |
is a | snp |
is | mentioned by |
dbSNP | rs431905502 |
dbSNP (classic) | rs431905502 |
ClinGen | rs431905502 |
ebi | rs431905502 |
HLI | rs431905502 |
Exac | rs431905502 |
Gnomad | rs431905502 |
Varsome | rs431905502 |
LitVar | rs431905502 |
Map | rs431905502 |
PheGenI | rs431905502 |
Biobank | rs431905502 |
1000 genomes | rs431905502 |
hgdp | rs431905502 |
ensembl | rs431905502 |
geneview | rs431905502 |
scholar | rs431905502 |
rs431905502 | |
pharmgkb | rs431905502 |
gwascentral | rs431905502 |
openSNP | rs431905502 |
23andMe | rs431905502 |
SNPshot | rs431905502 |
SNPdbe | rs431905502 |
MSV3d | rs431905502 |
GWAS Ctlg | rs431905502 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905502(-;-) |
Alt | rs431905502(-;-) |
Reference | Rs431905502(GAA;GAA) |
Significance | Pathogenic |
Disease | Phosphoglycerate kinase 1 deficiency |
Variation | info |
Gene | PGK1 |
CLNDBN | Phosphoglycerate kinase 1 deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.77373600_77373602delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010627.4, |