rs587777760
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs587777760(-;-) |
Make rs587777760(-;TT) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 20786995 |
Gene | PI4KA, SERPIND1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777760 |
dbSNP (classic) | rs587777760 |
ClinGen | rs587777760 |
ebi | rs587777760 |
HLI | rs587777760 |
Exac | rs587777760 |
Gnomad | rs587777760 |
Varsome | rs587777760 |
LitVar | rs587777760 |
Map | rs587777760 |
PheGenI | rs587777760 |
Biobank | rs587777760 |
1000 genomes | rs587777760 |
hgdp | rs587777760 |
ensembl | rs587777760 |
geneview | rs587777760 |
scholar | rs587777760 |
rs587777760 | |
pharmgkb | rs587777760 |
gwascentral | rs587777760 |
openSNP | rs587777760 |
23andMe | rs587777760 |
SNPshot | rs587777760 |
SNPdbe | rs587777760 |
MSV3d | rs587777760 |
GWAS Ctlg | rs587777760 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777760(-;-) |
Alt | rs587777760(-;-) |
Reference | Rs587777760(TT;TT) |
Significance | Pathogenic |
Disease | Heparin cofactor II deficiency |
Variation | info |
Gene | SERPIND1 PI4KA |
CLNDBN | Heparin cofactor II deficiency |
Reversed | 0 |
HGVS | NC_000022.10:g.21141283_21141284delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016094.23, |