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rs121909562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909562(C;T)
Make rs121909562(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173911942
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909562
dbSNP (classic)rs121909562
ClinGenrs121909562
ebirs121909562
HLIrs121909562
Exacrs121909562
Gnomadrs121909562
Varsomers121909562
LitVarrs121909562
Maprs121909562
PheGenIrs121909562
Biobankrs121909562
1000 genomesrs121909562
hgdprs121909562
ensemblrs121909562
geneviewrs121909562
scholarrs121909562
googlers121909562
pharmgkbrs121909562
gwascentralrs121909562
openSNPrs121909562
23andMers121909562
SNPshotrs121909562
SNPdbers121909562
MSV3drs121909562
GWAS Ctlgrs121909562
Max Magnitude0
OMIM107300
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121909562(T;T)
Alt rs121909562(T;T)
Reference Rs121909562(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173881080G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019645.27,