rs121912714

rare Pi-P variant

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121912714(A;T)

Make rs121912714(T;T)

Reference

GRCh38 38.1/142

Chromosome

14

Position

94380949

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs121912714
dbSNP (classic)	rs121912714
ClinGen	rs121912714
ebi	rs121912714
HLI	rs121912714
Exac	rs121912714
Gnomad	rs121912714
Varsome	rs121912714
LitVar	rs121912714
Map	rs121912714
PheGenI	rs121912714
Biobank	rs121912714
1000 genomes	rs121912714
hgdp	rs121912714
ensembl	rs121912714
geneview	rs121912714
scholar	rs121912714
google	rs121912714
pharmgkb	rs121912714
gwascentral	rs121912714
openSNP	rs121912714
23andMe	rs121912714
SNPshot	rs121912714
SNPdbe	rs121912714
MSV3d	rs121912714
GWAS Ctlg	rs121912714

Merged from

Rs28929472

Max Magnitude

0

OMIM	107400
Desc
Variant	0037
Related	also

OMIM	107400
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121912714(T;T)
Alt	rs121912714(T;T)
Reference	Rs121912714(A;A)
Significance	Other
Disease	PI P(LOWELL) PI NULL(CARDIFF) PI Q0(CARDIFF) PI P(DUARTE) Alpha-1-antitrypsin deficiency not provided
Variation	info
Gene	SERPINA1
CLNDBN	PI P(LOWELL) PI NULL(CARDIFF) PI Q0(CARDIFF) PI P(DUARTE) Alpha-1-antitrypsin deficiency not provided
Reversed	1
HGVS	NC_000014.8:g.94847286T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019576.5, RCV000019577.5, RCV000019578.5, RCV000019605.4, RCV000148876.1, RCV000398063.1,

[PMID 1504305] Molecular characterization of the P and I variants of alpha 1-antitrypsin.

[PMID 2240842] Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.

[PMID 2787118] The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

[PMID 8364590] Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.