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rs121909573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909573(C;C)
Make rs121909573(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173914582
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909573
dbSNP (classic)rs121909573
ClinGenrs121909573
ebirs121909573
HLIrs121909573
Exacrs121909573
Gnomadrs121909573
Varsomers121909573
LitVarrs121909573
Maprs121909573
PheGenIrs121909573
Biobankrs121909573
1000 genomesrs121909573
hgdprs121909573
ensemblrs121909573
geneviewrs121909573
scholarrs121909573
googlers121909573
pharmgkbrs121909573
gwascentralrs121909573
openSNPrs121909573
23andMers121909573
SNPshotrs121909573
SNPdbers121909573
MSV3drs121909573
GWAS Ctlgrs121909573
Max Magnitude0
OMIM107300
Desc
Variant0048
Relatedalso
ClinVar
Risk rs121909573(C;C)
Alt rs121909573(C;C)
Reference Rs121909573(T;T)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173883720A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019660.27,