rs587777396
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777396(A;A) |
Make rs587777396(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 15331576 |
Gene | PIGA |
is a | snp |
is | mentioned by |
dbSNP | rs587777396 |
dbSNP (classic) | rs587777396 |
ClinGen | rs587777396 |
ebi | rs587777396 |
HLI | rs587777396 |
Exac | rs587777396 |
Gnomad | rs587777396 |
Varsome | rs587777396 |
LitVar | rs587777396 |
Map | rs587777396 |
PheGenI | rs587777396 |
Biobank | rs587777396 |
1000 genomes | rs587777396 |
hgdp | rs587777396 |
ensembl | rs587777396 |
geneview | rs587777396 |
scholar | rs587777396 |
rs587777396 | |
pharmgkb | rs587777396 |
gwascentral | rs587777396 |
openSNP | rs587777396 |
23andMe | rs587777396 |
SNPshot | rs587777396 |
SNPdbe | rs587777396 |
MSV3d | rs587777396 |
GWAS Ctlg | rs587777396 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777396(A;A) |
Alt | rs587777396(A;A) |
Reference | Rs587777396(G;G) |
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 | 0 |
HGVS | NC_000023.10:g.15349698G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000119283.2, RCV000443275.1, |