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rs1057516212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAC;TCAC) 0 common in clinvar
Make rs1057516212(-;-)
Make rs1057516212(-;TCAC)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94382947
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1057516212
dbSNP (old)rs1057516212
ClinGenrs1057516212
ebirs1057516212
HLIrs1057516212
Exacrs1057516212
Gnomadrs1057516212
Varsomers1057516212
LitVarrs1057516212
Maprs1057516212
PheGenIrs1057516212
Biobankrs1057516212
1000 genomesrs1057516212
hgdprs1057516212
ensemblrs1057516212
gopubmedrs1057516212
geneviewrs1057516212
scholarrs1057516212
googlers1057516212
pharmgkbrs1057516212
gwascentralrs1057516212
openSNPrs1057516212
23andMers1057516212
23andMe allrs1057516212
SNPshotrs1057516212
SNPdbers1057516212
MSV3drs1057516212
GWAS Ctlgrs1057516212
Max Magnitude0
ClinVar
Risk rs1057516212(-;-)
Alt rs1057516212(-;-)
Reference Rs1057516212(TCAC;TCAC)
Significance Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94849284_94849287delGTGA
CLNSRC
CLNACC RCV000408906.1,