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rs55819880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier for Alpha-1 Antitrypsin Deficiency
(G;G) 0 common in complete genomics
Make rs55819880(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position94383008
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs55819880
dbSNP (classic)rs55819880
ClinGenrs55819880
ebirs55819880
HLIrs55819880
Exacrs55819880
Gnomadrs55819880
Varsomers55819880
LitVarrs55819880
Maprs55819880
PheGenIrs55819880
Biobankrs55819880
1000 genomesrs55819880
hgdprs55819880
ensemblrs55819880
geneviewrs55819880
scholarrs55819880
googlers55819880
pharmgkbrs55819880
gwascentralrs55819880
openSNPrs55819880
23andMers55819880
SNPshotrs55819880
SNPdbers55819880
MSV3drs55819880
GWAS Ctlgrs55819880
Max Magnitude3
OMIM107400
Desc
Variant0039
Relatedalso
ClinVar
Risk rs55819880(T;T)
Alt rs55819880(T;T)
Reference Rs55819880(C;C)
Significance Other
Disease PI S(IIYAMA) Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN PI S(IIYAMA) Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94849345G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019608.2, RCV000169508.3,