rs587776728
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(CT;CT) | 0 | common in clinvar |
(CTT;CTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776728(-;-) |
Make rs587776728(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 15321637 |
Gene | PIGA |
is a | snp |
is | mentioned by |
dbSNP | rs587776728 |
dbSNP (classic) | rs587776728 |
ClinGen | rs587776728 |
ebi | rs587776728 |
HLI | rs587776728 |
Exac | rs587776728 |
Gnomad | rs587776728 |
Varsome | rs587776728 |
LitVar | rs587776728 |
Map | rs587776728 |
PheGenI | rs587776728 |
Biobank | rs587776728 |
1000 genomes | rs587776728 |
hgdp | rs587776728 |
ensembl | rs587776728 |
geneview | rs587776728 |
scholar | rs587776728 |
rs587776728 | |
pharmgkb | rs587776728 |
gwascentral | rs587776728 |
openSNP | rs587776728 |
23andMe | rs587776728 |
SNPshot | rs587776728 |
SNPdbe | rs587776728 |
MSV3d | rs587776728 |
GWAS Ctlg | rs587776728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776728(AG;AG) rs587776728(-;-) |
Alt | Rs587776728(AG;AG) rs587776728(-;-) |
Reference | Rs587776728(CT;CT) |
Significance | Pathogenic |
Disease | Paroxysmal nocturnal hemoglobinuria 1 |
Variation | info |
Gene | PIGA |
CLNDBN | Paroxysmal nocturnal hemoglobinuria 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.15339759_15339760delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010642.4, |