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rs199422209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common genotype
(C;T) 3 carrier for Alpha-1 Antitrypsin Deficiency
Make rs199422209(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94378528
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs199422209
dbSNP (classic)rs199422209
ClinGenrs199422209
ebirs199422209
HLIrs199422209
Exacrs199422209
Gnomadrs199422209
Varsomers199422209
LitVarrs199422209
Maprs199422209
PheGenIrs199422209
Biobankrs199422209
1000 genomesrs199422209
hgdprs199422209
ensemblrs199422209
geneviewrs199422209
scholarrs199422209
googlers199422209
pharmgkbrs199422209
gwascentralrs199422209
openSNPrs199422209
23andMers199422209
23andMe allrs199422209
SNPshotrs199422209
SNPdbers199422209
MSV3drs199422209
GWAS Ctlgrs199422209
Max Magnitude3
ClinVar
Risk rs199422209(A;A) rs199422209(G;G) rs199422209(T;T)
Alt rs199422209(A;A) rs199422209(G;G) rs199422209(T;T)
Reference Rs199422209(C;C)
Significance Other
Disease PI M(HEERLEN) Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN PI M(HEERLEN) Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94844865G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019565.2, RCV000409001.2,