Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909564(C;T)
Make rs121909564(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173903902
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909564
dbSNP (classic)rs121909564
ClinGenrs121909564
ebirs121909564
HLIrs121909564
Exacrs121909564
Gnomadrs121909564
Varsomers121909564
LitVarrs121909564
Maprs121909564
PheGenIrs121909564
Biobankrs121909564
1000 genomesrs121909564
hgdprs121909564
ensemblrs121909564
geneviewrs121909564
scholarrs121909564
googlers121909564
pharmgkbrs121909564
gwascentralrs121909564
openSNPrs121909564
23andMers121909564
SNPshotrs121909564
SNPdbers121909564
MSV3drs121909564
GWAS Ctlgrs121909564
Max Magnitude0
OMIM107300
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121909564(T;T)
Alt rs121909564(T;T)
Reference Rs121909564(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873040G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019647.23,