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rs121909558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909558(A;A)
Make rs121909558(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173914845
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909558
dbSNP (classic)rs121909558
ClinGenrs121909558
ebirs121909558
HLIrs121909558
Exacrs121909558
Gnomadrs121909558
Varsomers121909558
LitVarrs121909558
Maprs121909558
PheGenIrs121909558
Biobankrs121909558
1000 genomesrs121909558
hgdprs121909558
ensemblrs121909558
geneviewrs121909558
scholarrs121909558
googlers121909558
pharmgkbrs121909558
gwascentralrs121909558
openSNPrs121909558
23andMers121909558
SNPshotrs121909558
SNPdbers121909558
MSV3drs121909558
GWAS Ctlgrs121909558
Max Magnitude0
OMIM107300
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121909558(A;A)
Alt rs121909558(A;A)
Reference Rs121909558(T;T)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173883983A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019637.24,