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rs121909548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909548(C;C)
Make rs121909548(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173904038
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909548
ebirs121909548
HLIrs121909548
Exacrs121909548
Varsomers121909548
Maprs121909548
PheGenIrs121909548
hapmaprs121909548
1000 genomesrs121909548
hgdprs121909548
ensemblrs121909548
gopubmedrs121909548
geneviewrs121909548
scholarrs121909548
googlers121909548
pharmgkbrs121909548
gwascentralrs121909548
openSNPrs121909548
23andMers121909548
23andMe allrs121909548
SNP Nexus

SNPshotrs121909548
SNPdbers121909548
MSV3drs121909548
GWAS Ctlgrs121909548
Merged fromRs121909559, Rs28930978
GMAF0.0004591
Max Magnitude0
OMIM107300
Desc
Variant0007
Relatedalso
OMIM107300
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121909548(C,T;C,T)
Alt rs121909548(C,T;C,T)
Reference rs121909548(G;G)
Significance Other
Disease Antithrombin III deficiency Antithrombin deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency Antithrombin deficiency
Reversed 1
HGVS NC_000001.10:g.173873176C>A; NC_000001.10:g.173873176C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019639.27, RCV000148884.1, RCV000019623.28,