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rs1057516448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516448(-;-)
Make rs1057516448(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94381074
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1057516448
dbSNP (old)rs1057516448
ClinGenrs1057516448
ebirs1057516448
HLIrs1057516448
Exacrs1057516448
Gnomadrs1057516448
Varsomers1057516448
Maprs1057516448
PheGenIrs1057516448
Biobankrs1057516448
1000 genomesrs1057516448
hgdprs1057516448
ensemblrs1057516448
gopubmedrs1057516448
geneviewrs1057516448
scholarrs1057516448
googlers1057516448
pharmgkbrs1057516448
gwascentralrs1057516448
openSNPrs1057516448
23andMers1057516448
23andMe allrs1057516448
SNPshotrs1057516448
SNPdbers1057516448
MSV3drs1057516448
GWAS Ctlgrs1057516448
Max Magnitude0
ClinVar
Risk rs1057516448(-;-)
Alt rs1057516448(-;-)
Reference Rs1057516448(C;C)
Significance Probable-Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94847411delG
CLNSRC
CLNACC RCV000410206.1,