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rs20546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs20546(C;T)
Make rs20546(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position94382814
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs20546
dbSNP (classic)rs20546
ClinGenrs20546
ebirs20546
HLIrs20546
Exacrs20546
Gnomadrs20546
Varsomers20546
LitVarrs20546
Maprs20546
PheGenIrs20546
Biobankrs20546
1000 genomesrs20546
hgdprs20546
ensemblrs20546
geneviewrs20546
scholarrs20546
googlers20546
pharmgkbrs20546
gwascentralrs20546
openSNPrs20546
23andMers20546
SNPshotrs20546
SNPdbers20546
MSV3drs20546
GWAS Ctlgrs20546
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs20546(T;T)
Alt rs20546(T;T)
Reference Rs20546(C;C)
Significance Probable-non-pathogenic
Disease not specified Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN not specified Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94849151G>A
CLNSRC
CLNACC RCV000155575.2, RCV000405780.1,