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rs1243164

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1243164(G;T)
Make rs1243164(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position94378133
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1243164
dbSNP (old)rs1243164
ClinGenrs1243164
ebirs1243164
HLIrs1243164
Exacrs1243164
Gnomadrs1243164
Varsomers1243164
Maprs1243164
PheGenIrs1243164
Biobankrs1243164
1000 genomesrs1243164
hgdprs1243164
ensemblrs1243164
gopubmedrs1243164
geneviewrs1243164
scholarrs1243164
googlers1243164
pharmgkbrs1243164
gwascentralrs1243164
openSNPrs1243164
23andMers1243164
23andMe allrs1243164
SNP Nexus

SNPshotrs1243164
SNPdbers1243164
MSV3drs1243164
GWAS Ctlgrs1243164
Max Magnitude0
? (G;G) (G;T) (T;T) 28


ClinVar
Risk rs1243164(A;A) rs1243164(T;T)
Alt rs1243164(A;A) rs1243164(T;T)
Reference Rs1243164(G;G)
Significance Probable-non-pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94844470C>A
CLNSRC
CLNACC RCV000274082.1,