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rs370038282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370038282(A;A)
Make rs370038282(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94383217
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs370038282
dbSNP (classic)rs370038282
ClinGenrs370038282
ebirs370038282
HLIrs370038282
Exacrs370038282
Gnomadrs370038282
Varsomers370038282
LitVarrs370038282
Maprs370038282
PheGenIrs370038282
Biobankrs370038282
1000 genomesrs370038282
hgdprs370038282
ensemblrs370038282
geneviewrs370038282
scholarrs370038282
googlers370038282
pharmgkbrs370038282
gwascentralrs370038282
openSNPrs370038282
23andMers370038282
SNPshotrs370038282
SNPdbers370038282
MSV3drs370038282
GWAS Ctlgrs370038282
Max Magnitude0
ClinVar
Risk rs370038282(A;A) rs370038282(T;T)
Alt rs370038282(A;A) rs370038282(T;T)
Reference Rs370038282(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.94849554C>T
CLNSRC
CLNACC RCV000411794.1,