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rs121909568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909568(C;T)
Make rs121909568(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173904028
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909568
dbSNP (classic)rs121909568
ClinGenrs121909568
ebirs121909568
HLIrs121909568
Exacrs121909568
Gnomadrs121909568
Varsomers121909568
LitVarrs121909568
Maprs121909568
PheGenIrs121909568
Biobankrs121909568
1000 genomesrs121909568
hgdprs121909568
ensemblrs121909568
geneviewrs121909568
scholarrs121909568
googlers121909568
pharmgkbrs121909568
gwascentralrs121909568
openSNPrs121909568
23andMers121909568
SNPshotrs121909568
SNPdbers121909568
MSV3drs121909568
GWAS Ctlgrs121909568
Max Magnitude0
OMIM107300
Desc
Variant0042
Relatedalso
ClinVar
Risk rs121909568(T;T)
Alt rs121909568(T;T)
Reference Rs121909568(C;C)
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.173873166G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019654.27, RCV000148883.1,