rs786200912
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786200912(-;AATTGAGATGGATGACTCCAGATTCTATCATTGA) |
Make rs786200912(AATTGAGATGGATGACTCCAGATTCTATCATTGA;AATTGAGATGGATGACTCCAGATTCTATCATTGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 15321605 |
Gene | PIGA |
is a | snp |
is | mentioned by |
dbSNP | rs786200912 |
dbSNP (classic) | rs786200912 |
ClinGen | rs786200912 |
ebi | rs786200912 |
HLI | rs786200912 |
Exac | rs786200912 |
Gnomad | rs786200912 |
Varsome | rs786200912 |
LitVar | rs786200912 |
Map | rs786200912 |
PheGenI | rs786200912 |
Biobank | rs786200912 |
1000 genomes | rs786200912 |
hgdp | rs786200912 |
ensembl | rs786200912 |
geneview | rs786200912 |
scholar | rs786200912 |
rs786200912 | |
pharmgkb | rs786200912 |
gwascentral | rs786200912 |
openSNP | rs786200912 |
23andMe | rs786200912 |
SNPshot | rs786200912 |
SNPdbe | rs786200912 |
MSV3d | rs786200912 |
GWAS Ctlg | rs786200912 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200912(AATTGAGATGGATGACTCCAGATTCTATCATTGA;AATTGAGATGGATGACTCCAGATTCTATCATTGA) |
Alt | rs786200912(AATTGAGATGGATGACTCCAGATTCTATCATTGA;AATTGAGATGGATGACTCCAGATTCTATCATTGA) |
Reference | Rs786200912(-;-) |
Significance | Pathogenic |
Disease | Paroxysmal nocturnal hemoglobinuria 1 |
Variation | info |
Gene | PIGA |
CLNDBN | Paroxysmal nocturnal hemoglobinuria 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.15339727_15339728insTCAATGATAGAATCTGGAGTCATCCATCTCAATT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010644.3, |