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rs121909546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909546(A;A)
Make rs121909546(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173903978
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909546
dbSNP (classic)rs121909546
ClinGenrs121909546
ebirs121909546
HLIrs121909546
Exacrs121909546
Gnomadrs121909546
Varsomers121909546
LitVarrs121909546
Maprs121909546
PheGenIrs121909546
Biobankrs121909546
1000 genomesrs121909546
hgdprs121909546
ensemblrs121909546
geneviewrs121909546
scholarrs121909546
googlers121909546
pharmgkbrs121909546
gwascentralrs121909546
openSNPrs121909546
23andMers121909546
SNPshotrs121909546
SNPdbers121909546
MSV3drs121909546
GWAS Ctlgrs121909546
Max Magnitude0
OMIM107300
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909546(A;A)
Alt rs121909546(A;A)
Reference Rs121909546(G;G)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873116C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019619.27,