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