rs709932

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common in clinvar

Make rs709932(A;A)

Make rs709932(A;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

94382864

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs709932
dbSNP (classic)	rs709932
ClinGen	rs709932
ebi	rs709932
HLI	rs709932
Exac	rs709932
Gnomad	rs709932
Varsome	rs709932
LitVar	rs709932
Map	rs709932
PheGenI	rs709932
Biobank	rs709932
1000 genomes	rs709932
hgdp	rs709932
ensembl	rs709932
geneview	rs709932
scholar	rs709932
google	rs709932
pharmgkb	rs709932
gwascentral	rs709932
openSNP	rs709932
23andMe	rs709932
SNPshot	rs709932
SNPdbe	rs709932
MSV3d	rs709932
GWAS Ctlg	rs709932

GMAF

0.1309

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

OMIM	107400
Desc	PI M2
Variant	0003
Related	also

OMIM	107400
Desc	PI M4
Variant	0005
Related	also

[PMID 21067581 ] finds no association between rs709932 and pulmonary emphysema

[PMID 22723858 ] 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 Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI M2 PI M4 not specified Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94849201C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019557.3, RCV000019559.2, RCV000155576.4, RCV000310904.1,

[PMID 16608528 ] Genetic polymorphisms and susceptibility to lung disease.

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

[PMID 31298815] SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.