rs587777399
From SNPedia
					| Orientation | plus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (AAG;AAG) | 0 | common in clinvar | 
| (CTT;CTT) | 0 | common in clinvar | 
| (CTTA;CTTA) | 0 | common in clinvar | 
| (I;I) | 0 | common genotype | 
| Make rs587777399(-;-) | 
| Make rs587777399(-;AAG) | 
| Reference | GRCh38 38.1/142 | 
| Chromosome | X | 
| Position | 15324821 | 
| Gene | PIGA | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs587777399 | 
| dbSNP (classic) | rs587777399 | 
| ClinGen | rs587777399 | 
| ebi | rs587777399 | 
| HLI | rs587777399 | 
| Exac | rs587777399 | 
| Gnomad | rs587777399 | 
| Varsome | rs587777399 | 
| LitVar | rs587777399 | 
| Map | rs587777399 | 
| PheGenI | rs587777399 | 
| Biobank | rs587777399 | 
| 1000 genomes | rs587777399 | 
| hgdp | rs587777399 | 
| ensembl | rs587777399 | 
| geneview | rs587777399 | 
| scholar | rs587777399 | 
| rs587777399 | |
| pharmgkb | rs587777399 | 
| gwascentral | rs587777399 | 
| openSNP | rs587777399 | 
| 23andMe | rs587777399 | 
| SNPshot | rs587777399 | 
| SNPdbe | rs587777399 | 
| MSV3d | rs587777399 | 
| GWAS Ctlg | rs587777399 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | Rs587777399(AAG;AAG) rs587777399(-;-) | 
| Alt | Rs587777399(AAG;AAG) rs587777399(-;-) | 
| Reference | Rs587777399(CTT;CTT) | 
| Significance | Pathogenic | 
| Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 2 not provided | 
| Variation | info | 
| Gene | PIGA | 
| CLNDBN | Multiple congenital anomalies-hypotonia-seizures syndrome 2 not provided | 
| Reversed | 1 | 
| HGVS | NC_000023.10:g.15342943_15342945delAAG | 
| CLNSRC | OMIM Allelic Variant | 
| CLNACC | RCV000119287.2, RCV000478249.1, | 


