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rs10509305

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome10
Position68885620
GeneSTOX1
is asnp
is mentioned by
dbSNPrs10509305
ebirs10509305
HLIrs10509305
Exacrs10509305
Varsomers10509305
Maprs10509305
PheGenIrs10509305
hapmaprs10509305
1000 genomesrs10509305
hgdprs10509305
ensemblrs10509305
gopubmedrs10509305
geneviewrs10509305
scholarrs10509305
googlers10509305
pharmgkbrs10509305
gwascentralrs10509305
openSNPrs10509305
23andMers10509305
23andMe allrs10509305
SNP Nexus

SNPshotrs10509305
SNPdbers10509305
MSV3drs10509305
GWAS Ctlgrs10509305
GMAF0.1437
Max Magnitude3

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


Venter snp
Source plos
Gene STOX1
allele C
frequency 0.283
sift
HuRef 1103649970872
Disease Association Defects in STOX1 are the cause of preeclampsia/eclampsia 4 (PEE4) (MIM:609404); also known as gestational proteinuric hypertension. Preeclampsia is a pregnancy-associated disease with maternal symptoms but placental origin. Unlike most other human disorders, it impacts 2 individuals, the mother and her child, both of whom can be severely affected. The pathological mechanism of PEE4 involves the loss of function of STOX1 in the placenta.



OMIM609397
Desc
Variant0002
Relatedalso


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
CLNACC RCV000001790.2,



GET Evidence
STOX1-E608D
aa_change Glu608Asp
aa_change_short E608D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.125
summary