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rs121909552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909552(A;A)
Make rs121909552(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position173914725
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909552
ebirs121909552
HLIrs121909552
Exacrs121909552
Varsomers121909552
Maprs121909552
PheGenIrs121909552
hapmaprs121909552
1000 genomesrs121909552
hgdprs121909552
ensemblrs121909552
gopubmedrs121909552
geneviewrs121909552
scholarrs121909552
googlers121909552
pharmgkbrs121909552
gwascentralrs121909552
openSNPrs121909552
23andMers121909552
23andMe allrs121909552
SNP Nexus

SNPshotrs121909552
SNPdbers121909552
MSV3drs121909552
GWAS Ctlgrs121909552
GMAF0.0009183
Max Magnitude0
OMIM107300
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909552(A;A)
Alt rs121909552(A;A)
Reference rs121909552(G;G)
Significance Pathogenic
Disease Antithrombin III deficiency Antithrombin deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency Antithrombin deficiency
Reversed 1
HGVS NC_000001.10:g.173883863C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019630.25, RCV000148881.1,