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rs762321137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762321137(G;T)
Make rs762321137(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94383052
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs762321137
dbSNP (classic)rs762321137
ClinGenrs762321137
ebirs762321137
HLIrs762321137
Exacrs762321137
Gnomadrs762321137
Varsomers762321137
LitVarrs762321137
Maprs762321137
PheGenIrs762321137
Biobankrs762321137
1000 genomesrs762321137
hgdprs762321137
ensemblrs762321137
geneviewrs762321137
scholarrs762321137
googlers762321137
pharmgkbrs762321137
gwascentralrs762321137
openSNPrs762321137
23andMers762321137
SNPshotrs762321137
SNPdbers762321137
MSV3drs762321137
GWAS Ctlgrs762321137
Max Magnitude0
ClinVar
Risk rs762321137(T;T)
Alt rs762321137(T;T)
Reference Rs762321137(G;G)
Significance Probable-Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 0
HGVS NC_000014.8:g.94849389G>T
CLNSRC
CLNACC RCV000409474.1,