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rs121909549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909549(C;C)
Make rs121909549(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173904010
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909549
ebirs121909549
HLIrs121909549
Exacrs121909549
Varsomers121909549
Maprs121909549
PheGenIrs121909549
hapmaprs121909549
1000 genomesrs121909549
hgdprs121909549
ensemblrs121909549
gopubmedrs121909549
geneviewrs121909549
scholarrs121909549
googlers121909549
pharmgkbrs121909549
gwascentralrs121909549
openSNPrs121909549
23andMers121909549
23andMe allrs121909549
SNP Nexus

SNPshotrs121909549
SNPdbers121909549
MSV3drs121909549
GWAS Ctlgrs121909549
Merged fromRs121909556
Max Magnitude0
OMIM107300
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909549(A,C;A,C)
Alt rs121909549(A,C;A,C)
Reference rs121909549(G;G)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873148C>G; NC_000001.10:g.173873148C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019625.27, RCV000019635.27,