rs587777416
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACT;ACT) | 0 | common in clinvar |
(AGT;AGT) | 0 | common in clinvar |
(AGTT;AGTT) | 0 | common in clinvar |
Make rs587777416(-;-) |
Make rs587777416(-;ACT) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 83178680 |
Gene | PGM3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777416 |
dbSNP (classic) | rs587777416 |
ClinGen | rs587777416 |
ebi | rs587777416 |
HLI | rs587777416 |
Exac | rs587777416 |
Gnomad | rs587777416 |
Varsome | rs587777416 |
LitVar | rs587777416 |
Map | rs587777416 |
PheGenI | rs587777416 |
Biobank | rs587777416 |
1000 genomes | rs587777416 |
hgdp | rs587777416 |
ensembl | rs587777416 |
geneview | rs587777416 |
scholar | rs587777416 |
rs587777416 | |
pharmgkb | rs587777416 |
gwascentral | rs587777416 |
openSNP | rs587777416 |
23andMe | rs587777416 |
SNPshot | rs587777416 |
SNPdbe | rs587777416 |
MSV3d | rs587777416 |
GWAS Ctlg | rs587777416 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777416(ACT;ACT) rs587777416(-;-) |
Alt | Rs587777416(ACT;ACT) rs587777416(-;-) |
Reference | Rs587777416(AGT;AGT) |
Significance | Pathogenic |
Disease | Immunodeficiency 23 |
Variation | info |
Gene | PGM3 |
CLNDBN | Immunodeficiency 23 |
Reversed | 1 |
HGVS | NC_000006.11:g.83888399_83888401delACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119831.4, |