rs587777397
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777397(-;A) |
Make rs587777397(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 15331855 |
Gene | PIGA |
is a | snp |
is | mentioned by |
dbSNP | rs587777397 |
dbSNP (classic) | rs587777397 |
ClinGen | rs587777397 |
ebi | rs587777397 |
HLI | rs587777397 |
Exac | rs587777397 |
Gnomad | rs587777397 |
Varsome | rs587777397 |
LitVar | rs587777397 |
Map | rs587777397 |
PheGenI | rs587777397 |
Biobank | rs587777397 |
1000 genomes | rs587777397 |
hgdp | rs587777397 |
ensembl | rs587777397 |
geneview | rs587777397 |
scholar | rs587777397 |
rs587777397 | |
pharmgkb | rs587777397 |
gwascentral | rs587777397 |
openSNP | rs587777397 |
23andMe | rs587777397 |
SNPshot | rs587777397 |
SNPdbe | rs587777397 |
MSV3d | rs587777397 |
GWAS Ctlg | rs587777397 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777397(A;A) |
Alt | rs587777397(A;A) |
Reference | Rs587777397(-;-) |
Significance | Pathogenic |
Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
Variation | info |
Gene | PIGA |
CLNDBN | Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.15349977dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119284.2, |