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rs121909560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs121909560(-;-)
Make rs121909560(-;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position173909737
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909560
dbSNP (classic)rs121909560
ClinGenrs121909560
ebirs121909560
HLIrs121909560
Exacrs121909560
Gnomadrs121909560
Varsomers121909560
LitVarrs121909560
Maprs121909560
PheGenIrs121909560
Biobankrs121909560
1000 genomesrs121909560
hgdprs121909560
ensemblrs121909560
geneviewrs121909560
scholarrs121909560
googlers121909560
pharmgkbrs121909560
gwascentralrs121909560
openSNPrs121909560
23andMers121909560
SNPshotrs121909560
SNPdbers121909560
MSV3drs121909560
GWAS Ctlgrs121909560
Max Magnitude0
OMIM107300
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121909560(-;-)
Alt rs121909560(-;-)
Reference Rs121909560(AG;AG)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173878875_173878876delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000019643.27,