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

rs121909557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909557(A;A)
Make rs121909557(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173904044
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909557
dbSNP (classic)rs121909557
ClinGenrs121909557
ebirs121909557
HLIrs121909557
Exacrs121909557
Gnomadrs121909557
Varsomers121909557
LitVarrs121909557
Maprs121909557
PheGenIrs121909557
Biobankrs121909557
1000 genomesrs121909557
hgdprs121909557
ensemblrs121909557
geneviewrs121909557
scholarrs121909557
googlers121909557
pharmgkbrs121909557
gwascentralrs121909557
openSNPrs121909557
23andMers121909557
SNPshotrs121909557
SNPdbers121909557
MSV3drs121909557
GWAS Ctlgrs121909557
Max Magnitude0
OMIM107300
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121909557(A;A)
Alt rs121909557(A;A)
Reference Rs121909557(G;G)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873182C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019636.28,