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, |