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rs1057516555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516555(A;G)
Make rs1057516555(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94383237
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1057516555
dbSNP (old)rs1057516555
ClinGenrs1057516555
ebirs1057516555
HLIrs1057516555
Exacrs1057516555
Gnomadrs1057516555
Varsomers1057516555
LitVarrs1057516555
Maprs1057516555
PheGenIrs1057516555
Biobankrs1057516555
1000 genomesrs1057516555
hgdprs1057516555
ensemblrs1057516555
gopubmedrs1057516555
geneviewrs1057516555
scholarrs1057516555
googlers1057516555
pharmgkbrs1057516555
gwascentralrs1057516555
openSNPrs1057516555
23andMers1057516555
23andMe allrs1057516555
SNPshotrs1057516555
SNPdbers1057516555
MSV3drs1057516555
GWAS Ctlgrs1057516555
Max Magnitude0
ClinVar
Risk rs1057516555(G;G)
Alt rs1057516555(G;G)
Reference Rs1057516555(A;A)
Significance Probable-Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94849574T>C
CLNSRC
CLNACC RCV000411735.1,