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rs864622043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAAGCTGC;GAAGCTGC) 0 common in clinvar
Make rs864622043(AAAAACA;AAAAACA)
Make rs864622043(AAAAACA;GAAGCTGC)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position94378591
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs864622043
dbSNP (old)rs864622043
ClinGenrs864622043
ebirs864622043
HLIrs864622043
Exacrs864622043
Varsomers864622043
Maprs864622043
PheGenIrs864622043
Biobankrs864622043
1000 genomesrs864622043
hgdprs864622043
ensemblrs864622043
gopubmedrs864622043
geneviewrs864622043
scholarrs864622043
googlers864622043
pharmgkbrs864622043
gwascentralrs864622043
openSNPrs864622043
23andMers864622043
23andMe allrs864622043
SNP Nexus

SNPshotrs864622043
SNPdbers864622043
MSV3drs864622043
GWAS Ctlgrs864622043
Max Magnitude0
ClinVar
Risk rs864622043(AAAAACA;AAAAACA)
Alt rs864622043(AAAAACA;AAAAACA)
Reference Rs864622043(GAAGCTGC;GAAGCTGC)
Significance Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94844928_94844935delGCAGCTTCinsTGTTTTT
CLNSRC
CLNACC RCV000204775.1,