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rs121909561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GATG;GATG) 0 common in clinvar
Make rs121909561(-;-)
Make rs121909561(-;GATG)
ReferenceGRCh38 38.1/141
Chromosome1
Position173909681
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909561
dbSNP (classic)rs121909561
ClinGenrs121909561
ebirs121909561
HLIrs121909561
Exacrs121909561
Gnomadrs121909561
Varsomers121909561
LitVarrs121909561
Maprs121909561
PheGenIrs121909561
Biobankrs121909561
1000 genomesrs121909561
hgdprs121909561
ensemblrs121909561
geneviewrs121909561
scholarrs121909561
googlers121909561
pharmgkbrs121909561
gwascentralrs121909561
openSNPrs121909561
23andMers121909561
SNPshotrs121909561
SNPdbers121909561
MSV3drs121909561
GWAS Ctlgrs121909561
Max Magnitude0
OMIM107300
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121909561(-;-)
Alt rs121909561(-;-)
Reference Rs121909561(GATG;GATG)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173878819_173878822delCATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019644.27,