rs587776732
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAA;GAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TTC;TTC) | 0 | common in clinvar |
(TTCC;TTCC) | 0 | common in clinvar |
Make rs587776732(-;-) |
Make rs587776732(-;GAA) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 18951135 |
Gene | PHKA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776732 |
dbSNP (classic) | rs587776732 |
ClinGen | rs587776732 |
ebi | rs587776732 |
HLI | rs587776732 |
Exac | rs587776732 |
Gnomad | rs587776732 |
Varsome | rs587776732 |
LitVar | rs587776732 |
Map | rs587776732 |
PheGenI | rs587776732 |
Biobank | rs587776732 |
1000 genomes | rs587776732 |
hgdp | rs587776732 |
ensembl | rs587776732 |
geneview | rs587776732 |
scholar | rs587776732 |
rs587776732 | |
pharmgkb | rs587776732 |
gwascentral | rs587776732 |
openSNP | rs587776732 |
23andMe | rs587776732 |
SNPshot | rs587776732 |
SNPdbe | rs587776732 |
MSV3d | rs587776732 |
GWAS Ctlg | rs587776732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776732(GAA;GAA) rs587776732(-;-) |
Alt | Rs587776732(GAA;GAA) rs587776732(-;-) |
Reference | Rs587776732(TTC;TTC) |
Significance | Pathogenic |
Disease | Glycogen storage disease type IXa1 |
Variation | info |
Gene | PHKA2 |
CLNDBN | Glycogen storage disease type IXa1 |
Reversed | 1 |
HGVS | NC_000023.10:g.18969253_18969255delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011278.6, |