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rs1243166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(T;T) 0 common in clinvar
Make rs1243166(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position94377481
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs1243166
dbSNP (old)rs1243166
ClinGenrs1243166
ebirs1243166
HLIrs1243166
Exacrs1243166
Gnomadrs1243166
Varsomers1243166
Maprs1243166
PheGenIrs1243166
Biobankrs1243166
1000 genomesrs1243166
hgdprs1243166
ensemblrs1243166
gopubmedrs1243166
geneviewrs1243166
scholarrs1243166
googlers1243166
pharmgkbrs1243166
gwascentralrs1243166
openSNPrs1243166
23andMers1243166
23andMe allrs1243166
SNP Nexus

SNPshotrs1243166
SNPdbers1243166
MSV3drs1243166
GWAS Ctlgrs1243166
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk Rs1243166(C;C)
Alt Rs1243166(C;C)
Reference Rs1243166(T;T)
Significance Probable-non-pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94843818A>G
CLNSRC
CLNACC RCV000342331.1,