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rs121912714

From SNPedia

rare Pi-P variant
Orientationminus
Stabilizedplus
Make rs121912714(A;A)
Make rs121912714(A;T)
Make rs121912714(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position94380949
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs121912714
ebirs121912714
HLIrs121912714
Exacrs121912714
Varsomers121912714
Maprs121912714
PheGenIrs121912714
hapmaprs121912714
1000 genomesrs121912714
hgdprs121912714
ensemblrs121912714
gopubmedrs121912714
geneviewrs121912714
scholarrs121912714
googlers121912714
pharmgkbrs121912714
gwascentralrs121912714
openSNPrs121912714
23andMers121912714
23andMe allrs121912714
SNP Nexus

SNPshotrs121912714
SNPdbers121912714
MSV3drs121912714
GWAS Ctlgrs121912714
Merged fromRs28929472
Max Magnitude
OMIM107400
Desc
Variant0037
Relatedalso
OMIM107400
Desc
Variant0019
Relatedalso
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
Variation info
Gene SERPINA1
CLNDBN PI P(LOWELL) PI NULL(CARDIFF) PI Q0(CARDIFF) PI P(DUARTE) Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94847286T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019576.5, RCV000019577.5, RCV000019578.5, RCV000019605.4, RCV000148876.1,


[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 2787118OA-icon.png] 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.