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rs121909565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909565(C;C)
Make rs121909565(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173909564
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909565
dbSNP (classic)rs121909565
ClinGenrs121909565
ebirs121909565
HLIrs121909565
Exacrs121909565
Gnomadrs121909565
Varsomers121909565
LitVarrs121909565
Maprs121909565
PheGenIrs121909565
Biobankrs121909565
1000 genomesrs121909565
hgdprs121909565
ensemblrs121909565
geneviewrs121909565
scholarrs121909565
googlers121909565
pharmgkbrs121909565
gwascentralrs121909565
openSNPrs121909565
23andMers121909565
SNPshotrs121909565
SNPdbers121909565
MSV3drs121909565
GWAS Ctlgrs121909565
Max Magnitude0
OMIM107300
Desc
Variant0036
Relatedalso
ClinVar
Risk rs121909565(C;C)
Alt rs121909565(C;C)
Reference Rs121909565(T;T)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173878702A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019648.23,