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rs121909554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909554(C;T)
Make rs121909554(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173904011
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909554
ebirs121909554
HLIrs121909554
Exacrs121909554
Varsomers121909554
Maprs121909554
PheGenIrs121909554
hapmaprs121909554
1000 genomesrs121909554
hgdprs121909554
ensemblrs121909554
gopubmedrs121909554
geneviewrs121909554
scholarrs121909554
googlers121909554
pharmgkbrs121909554
gwascentralrs121909554
openSNPrs121909554
23andMers121909554
23andMe allrs121909554
SNP Nexus

SNPshotrs121909554
SNPdbers121909554
MSV3drs121909554
GWAS Ctlgrs121909554
GMAF0.0004591
Max Magnitude0
OMIM107300
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121909554(T;T)
Alt rs121909554(T;T)
Reference rs121909554(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873149G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019632.28,