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rs709932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs709932(A;A)
Make rs709932(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position94382864
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs709932
ebirs709932
HLIrs709932
Exacrs709932
Varsomers709932
Maprs709932
PheGenIrs709932
hapmaprs709932
1000 genomesrs709932
hgdprs709932
ensemblrs709932
gopubmedrs709932
geneviewrs709932
scholarrs709932
googlers709932
pharmgkbrs709932
gwascentralrs709932
openSNPrs709932
23andMers709932
23andMe allrs709932
SNP Nexus

SNPshotrs709932
SNPdbers709932
MSV3drs709932
GWAS Ctlgrs709932
GMAF0.1309
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM107400
DescPI M2
Variant0003
Relatedalso
OMIM107400
DescPI M4
Variant0005
Relatedalso
Neighborrs28931572
Distance27
[PMID 21067581OA-icon.png] finds no association between rs709932 and pulmonary emphysema


[PMID 22723858OA-icon.png] Three New Alpha1-Antitrypsin Deficiency Variants Help to Define a C-Terminal Region Regulating Conformational Change and Polymerization


ClinVar
Risk rs709932(A;A)
Alt rs709932(A;A)
Reference rs709932(G;G)
Significance Other
Disease PI M2 PI M4 not specified
Variation info
Gene SERPINA1
CLNDBN PI M2 PI M4 not specified
Reversed 1
HGVS NC_000014.8:g.94849201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019557.3, RCV000019559.2, RCV000155576.2,



[PMID 16608528OA-icon.png] Genetic polymorphisms and susceptibility to lung disease.


[PMID 22426792] Serum levels and genotype distribution of alpha1-antitrypsin in the general population.


GET Evidence
SERPINA1-R125H
aa_change Arg125His
aa_change_short R125H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.120933
summary