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rs121909572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909572(C;C)
Make rs121909572(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173910849
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909572
dbSNP (classic)rs121909572
ClinGenrs121909572
ebirs121909572
HLIrs121909572
Exacrs121909572
Gnomadrs121909572
Varsomers121909572
LitVarrs121909572
Maprs121909572
PheGenIrs121909572
Biobankrs121909572
1000 genomesrs121909572
hgdprs121909572
ensemblrs121909572
geneviewrs121909572
scholarrs121909572
googlers121909572
pharmgkbrs121909572
gwascentralrs121909572
openSNPrs121909572
23andMers121909572
SNPshotrs121909572
SNPdbers121909572
MSV3drs121909572
GWAS Ctlgrs121909572
Max Magnitude0
OMIM107300
Desc
Variant0047
Relatedalso
ClinVar
Risk rs121909572(C;C)
Alt rs121909572(C;C)
Reference Rs121909572(T;T)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173879987A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019659.27,