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rs751235320

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs751235320(A;A)
Make rs751235320(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position94382591
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs751235320
ebirs751235320
HLIrs751235320
Exacrs751235320
Varsomers751235320
Maprs751235320
PheGenIrs751235320
hapmaprs751235320
1000 genomesrs751235320
hgdprs751235320
ensemblrs751235320
gopubmedrs751235320
geneviewrs751235320
scholarrs751235320
googlers751235320
pharmgkbrs751235320
gwascentralrs751235320
openSNPrs751235320
23andMers751235320
23andMe allrs751235320
SNP Nexus

SNPshotrs751235320
SNPdbers751235320
MSV3drs751235320
GWAS Ctlgrs751235320
Max Magnitude0
ClinVar
Risk rs751235320(A;A)
Alt rs751235320(A;A)
Reference rs751235320(C;C)
Significance Probable-Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 0
HGVS NC_000014.8:g.94848928C>A
CLNSRC
CLNACC RCV000169461.1,