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rs3788853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A)
(C;A)
(C;C) 0
(G;G) 0
(G;T)  ?
(T;T) normal
ReferenceGRCh38 38.1/141
ChromosomeX
Position129736814
GeneXPNPEP2
is asnp
is mentioned by
dbSNPrs3788853
ebirs3788853
HLIrs3788853
Exacrs3788853
Varsomers3788853
Maprs3788853
PheGenIrs3788853
hapmaprs3788853
1000 genomesrs3788853
hgdprs3788853
ensemblrs3788853
gopubmedrs3788853
geneviewrs3788853
scholarrs3788853
googlers3788853
pharmgkbrs3788853
gwascentralrs3788853
openSNPrs3788853
23andMers3788853
23andMe allrs3788853
SNP Nexus

SNPshotrs3788853
SNPdbers3788853
MSV3drs3788853
GWAS Ctlgrs3788853
GMAF0.24
Max Magnitude0
? (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 16175507OA-icon.png]

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.

OMIM300145
Desc
Variant0001
Relatedalso


[PMID 19178938] Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.


[PMID 20625347OA-icon.png] 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,