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rs121909563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909563(A;A)
Make rs121909563(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173911941
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909563
dbSNP (classic)rs121909563
ClinGenrs121909563
ebirs121909563
HLIrs121909563
Exacrs121909563
Gnomadrs121909563
Varsomers121909563
LitVarrs121909563
Maprs121909563
PheGenIrs121909563
Biobankrs121909563
1000 genomesrs121909563
hgdprs121909563
ensemblrs121909563
geneviewrs121909563
scholarrs121909563
googlers121909563
pharmgkbrs121909563
gwascentralrs121909563
openSNPrs121909563
23andMers121909563
SNPshotrs121909563
SNPdbers121909563
MSV3drs121909563
GWAS Ctlgrs121909563
Max Magnitude0
OMIM107300
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121909563(A;A) rs121909563(T;T)
Alt rs121909563(A;A) rs121909563(T;T)
Reference Rs121909563(G;G)
Significance Pathogenic
Disease Antithrombin III deficiency Antithrombin deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency Antithrombin deficiency
Reversed 1
HGVS NC_000001.10:g.173881079C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019646.27, RCV000148886.1,