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rs121909551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909551(C;T)
Make rs121909551(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position173914743
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909551
dbSNP (classic)rs121909551
ClinGenrs121909551
ebirs121909551
HLIrs121909551
Exacrs121909551
Gnomadrs121909551
Varsomers121909551
LitVarrs121909551
Maprs121909551
PheGenIrs121909551
Biobankrs121909551
1000 genomesrs121909551
hgdprs121909551
ensemblrs121909551
geneviewrs121909551
scholarrs121909551
googlers121909551
pharmgkbrs121909551
gwascentralrs121909551
openSNPrs121909551
23andMers121909551
SNPshotrs121909551
SNPdbers121909551
MSV3drs121909551
GWAS Ctlgrs121909551
GMAF0.0004591
Max Magnitude0
OMIM107300
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909551(T;T)
Alt rs121909551(T;T)
Reference Rs121909551(C;C)
Significance Other
Disease Antithrombin III deficiency Antithrombin deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency Antithrombin deficiency
Reversed 1
HGVS NC_000001.10:g.173883881G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019627.30, RCV000148882.1,