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rs199422210

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422210(C;G)
Make rs199422210(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position94382686
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs199422210
ebirs199422210
HLIrs199422210
Exacrs199422210
Varsomers199422210
Maprs199422210
PheGenIrs199422210
hapmaprs199422210
1000 genomesrs199422210
hgdprs199422210
ensemblrs199422210
gopubmedrs199422210
geneviewrs199422210
scholarrs199422210
googlers199422210
pharmgkbrs199422210
gwascentralrs199422210
openSNPrs199422210
23andMers199422210
23andMe allrs199422210
SNP Nexus

SNPshotrs199422210
SNPdbers199422210
MSV3drs199422210
GWAS Ctlgrs199422210
Max Magnitude0
ClinVar
Risk rs199422210(A,G,T;A,G,T)
Alt rs199422210(A,G,T;A,G,T)
Reference rs199422210(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.94849023G>C
CLNSRC
CLNACC RCV000169206.1,