rs10509305
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 1.5 | carrier for pre-eclampsia associated variant |
| (C;C) | 3 | fetuses with this genotype may cause maternal pre-eclampsia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 68885620 |
| Gene | STOX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10509305 |
| dbSNP (classic) | rs10509305 |
| ClinGen | rs10509305 |
| ebi | rs10509305 |
| HLI | rs10509305 |
| Exac | rs10509305 |
| Gnomad | rs10509305 |
| Varsome | rs10509305 |
| LitVar | rs10509305 |
| Map | rs10509305 |
| PheGenI | rs10509305 |
| Biobank | rs10509305 |
| 1000 genomes | rs10509305 |
| hgdp | rs10509305 |
| ensembl | rs10509305 |
| geneview | rs10509305 |
| scholar | rs10509305 |
| rs10509305 | |
| pharmgkb | rs10509305 |
| gwascentral | rs10509305 |
| openSNP | rs10509305 |
| 23andMe | rs10509305 |
| SNPshot | rs10509305 |
| SNPdbe | rs10509305 |
| MSV3d | rs10509305 |
| GWAS Ctlg | rs10509305 |
| GMAF | 0.1437 |
| Max Magnitude | 3 |
rs10509305, also known as Glu608Asp or E608D, is a variant in the storkhead box 1 STOX1 gene.
In [PMID 15806103] and subsequent publications, it is reported that when fetuses are rs10509305(C;C), their mothers are likely to have pre-eclampsia and possibly also pregnancy-induced hypertension.
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs10509305(C;C) |
| Alt | Rs10509305(C;C) |
| Reference | Rs10509305(A;A) |
| Significance | Pathogenic |
| Disease | Preeclampsia/eclampsia 4 |
| Variation | info |
| Gene | STOX1 |
| CLNDBN | Preeclampsia/eclampsia 4 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.70645376A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001790.2, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 10
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d
