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rs121909571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909571(A;G)
Make rs121909571(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173910861
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909571
dbSNP (classic)rs121909571
ClinGenrs121909571
ebirs121909571
HLIrs121909571
Exacrs121909571
Gnomadrs121909571
Varsomers121909571
LitVarrs121909571
Maprs121909571
PheGenIrs121909571
Biobankrs121909571
1000 genomesrs121909571
hgdprs121909571
ensemblrs121909571
geneviewrs121909571
scholarrs121909571
googlers121909571
pharmgkbrs121909571
gwascentralrs121909571
openSNPrs121909571
23andMers121909571
SNPshotrs121909571
SNPdbers121909571
MSV3drs121909571
GWAS Ctlgrs121909571
Max Magnitude0
OMIM107300
Desc
Variant0046
Relatedalso
ClinVar
Risk rs121909571(G;G)
Alt rs121909571(G;G)
Reference Rs121909571(A;A)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173879999T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019658.27,