rs3788853
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (C;A) | ||
| (C;C) | 0 | |
| (G;G) | 0 | |
| (G;T) | ? | |
| (T;T) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 129736814 |
| Gene | XPNPEP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3788853 |
| dbSNP (classic) | rs3788853 |
| ClinGen | rs3788853 |
| ebi | rs3788853 |
| HLI | rs3788853 |
| Exac | rs3788853 |
| Gnomad | rs3788853 |
| Varsome | rs3788853 |
| LitVar | rs3788853 |
| Map | rs3788853 |
| PheGenI | rs3788853 |
| Biobank | rs3788853 |
| 1000 genomes | rs3788853 |
| hgdp | rs3788853 |
| ensembl | rs3788853 |
| geneview | rs3788853 |
| scholar | rs3788853 |
| rs3788853 | |
| pharmgkb | rs3788853 |
| gwascentral | rs3788853 |
| openSNP | rs3788853 |
| 23andMe | rs3788853 |
| SNPshot | rs3788853 |
| SNPdbe | rs3788853 |
| MSV3d | rs3788853 |
| GWAS Ctlg | rs3788853 |
| GMAF | 0.24 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
A form of this snp, located upstream of the XPNPEP2 gene on the X chromosome, may cause susceptibility to skin swelling when taking medicines called ACE Inhibitors. [PMID 16175507
]
Also known as -2399C/A in the literature; however in SNPedia, where the orientation of the corresponding dbSNP entry is recognized as primary, this is G/T.
After noticing the association of this SNP with the phenotype, the authors genotyped 20 independent AE-ACEi cases and 60 unrelated, matching controls for this SNP. The T allele was present in 8 of the 20 AE patients; and by allele counting, the T allele was found at a frequency of 11.1% in the control population and 27.3% in their AE-ACEi cases.
- See also OMIM 300145
[PMID 19178938] Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.
[PMID 20625347] Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema.
| ClinVar | |
|---|---|
| Risk | Rs3788853(T;T) |
| Alt | Rs3788853(T;T) |
| Reference | Rs3788853(G;G) |
| Significance | Other |
| Disease | Angioedema induced by ACE inhibitors |
| Variation | info |
| Gene | |
| CLNDBN | Angioedema induced by ACE inhibitors, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000023.10:g.128870791C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012323.3, |
