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rs4934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.5x increased risk of Azheimer's and decreased age at onset
(A;G) None
(G;G) 0 None
ReferenceGRCh38 38.1/141
Chromosome14
Position94614466
GeneSERPINA3
is asnp
is mentioned by
dbSNPrs4934
ebirs4934
HLIrs4934
Exacrs4934
Varsomers4934
Maprs4934
PheGenIrs4934
hapmaprs4934
1000 genomesrs4934
hgdprs4934
ensemblrs4934
gopubmedrs4934
geneviewrs4934
scholarrs4934
googlers4934
pharmgkbrs4934
gwascentralrs4934
openSNPrs4934
23andMers4934
23andMe allrs4934
SNP Nexus

SNPshotrs4934
SNPdbers4934
MSV3drs4934
GWAS Ctlgrs4934
GMAF0.4362
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs4934 increases susceptibility to Alzheimer's disease 2.56 times for (A;A) homozygotes [PMID 10976648]

[PMID 18855268] systolic blood pressure increased with rs4934(A)


Venter snp
Source plos
Gene SERPINA3
allele A
frequency 0.492
sift TOLERATED
HuRef 1103649133833
Disease Association Defects in SERPINA3 may be a cause of chronic obstructive pulmonary disease (COPD) (MIM:107280).


[PMID 21067581OA-icon.png] finds no association between rs4934 and pulmonary emphysema


[PMID 19907165] Polymorphism rs4934 of SERPINA3 and Sporadic Intracranial Aneurysms in the Chinese Population

[PMID 16617143OA-icon.png] Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data.

[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.

[PMID 19390575OA-icon.png] Lung cancer susceptibility model based on age, family history and genetic variants.


GET Evidence
SERPINA3-A9T
aa_change Ala9Thr
aa_change_short A9T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.401097
summary



ClinVar
Risk rs4934(A;A)
Alt rs4934(A;A)
Reference rs4934(G;G)
Significance Non-pathogenic
Disease ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM
Variation info
Gene SERPINA3
CLNDBN ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM
Reversed 0
HGVS NC_000014.8:g.95080803G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019667.2,