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rs1057516929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516929(-;-)
Make rs1057516929(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94379511
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1057516929
dbSNP (classic)rs1057516929
ClinGenrs1057516929
ebirs1057516929
HLIrs1057516929
Exacrs1057516929
Gnomadrs1057516929
Varsomers1057516929
LitVarrs1057516929
Maprs1057516929
PheGenIrs1057516929
Biobankrs1057516929
1000 genomesrs1057516929
hgdprs1057516929
ensemblrs1057516929
geneviewrs1057516929
scholarrs1057516929
googlers1057516929
pharmgkbrs1057516929
gwascentralrs1057516929
openSNPrs1057516929
23andMers1057516929
23andMe allrs1057516929
SNPshotrs1057516929
SNPdbers1057516929
MSV3drs1057516929
GWAS Ctlgrs1057516929
Max Magnitude0
ClinVar
Risk rs1057516929(-;-)
Alt rs1057516929(-;-)
Reference Rs1057516929(G;G)
Significance Probable-Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94845848delC
CLNSRC
CLNACC RCV000411305.1,