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rs1303

From SNPedia

Pi-M M3 variant
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1303(G;G)
Make rs1303(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position94378506
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1303
ebirs1303
HLIrs1303
Exacrs1303
Varsomers1303
Maprs1303
PheGenIrs1303
hapmaprs1303
1000 genomesrs1303
hgdprs1303
ensemblrs1303
gopubmedrs1303
geneviewrs1303
scholarrs1303
googlers1303
pharmgkbrs1303
gwascentralrs1303
openSNPrs1303
23andMers1303
23andMe allrs1303
SNP Nexus

SNPshotrs1303
SNPdbers1303
MSV3drs1303
GWAS Ctlgrs1303
GMAF0.2268
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM107400
DescPI M3
Variant0004
Relatedalso
Neighborrs28929473
Distance69
[PMID 21067581OA-icon.png] finds no association between rs1303 and pulmonary emphysema


[PMID 20558996] Pilot Study on Schizophrenia in Sardinia


ClinVar
Risk rs1303(G;G)
Alt rs1303(G;G)
Reference rs1303(T;T)
Significance Other
Disease PI M3 not specified
Variation info
Gene SERPINA1
CLNDBN PI M3 not specified
Reversed 0
HGVS NC_000014.8:g.94844843T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019558.2, RCV000155574.1,



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


GET Evidence
SERPINA1-E400D
aa_change Glu400Asp
aa_change_short E400D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.208217
summary



GWAS snp
PMID [PMID 22916037OA-icon.png]
Trait Metabolite levels
Title Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Risk Allele
P-val 5E-48
Odds Ratio NR NR