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rs121909550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909550(C;T)
Make rs121909550(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173904007
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909550
dbSNP (classic)rs121909550
ClinGenrs121909550
ebirs121909550
HLIrs121909550
Exacrs121909550
Gnomadrs121909550
Varsomers121909550
LitVarrs121909550
Maprs121909550
PheGenIrs121909550
Biobankrs121909550
1000 genomesrs121909550
hgdprs121909550
ensemblrs121909550
geneviewrs121909550
scholarrs121909550
googlers121909550
pharmgkbrs121909550
gwascentralrs121909550
openSNPrs121909550
23andMers121909550
SNPshotrs121909550
SNPdbers121909550
MSV3drs121909550
GWAS Ctlgrs121909550
Max Magnitude0
OMIM107300
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909550(T;T)
Alt rs121909550(T;T)
Reference Rs121909550(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873145G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019626.27,