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rs121909547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 Venous thromboembolism association/risk
Make rs121909547(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173914726
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909547
dbSNP (classic)rs121909547
ClinGenrs121909547
ebirs121909547
HLIrs121909547
Exacrs121909547
Gnomadrs121909547
Varsomers121909547
LitVarrs121909547
Maprs121909547
PheGenIrs121909547
Biobankrs121909547
1000 genomesrs121909547
hgdprs121909547
ensemblrs121909547
geneviewrs121909547
scholarrs121909547
googlers121909547
pharmgkbrs121909547
gwascentralrs121909547
openSNPrs121909547
23andMers121909547
23andMe allrs121909547
SNPshotrs121909547
SNPdbers121909547
MSV3drs121909547
GWAS Ctlgrs121909547
Merged fromRs121909553
Max Magnitude7

aka c.235C>T (p.Arg79Cys or R79C); also c.235C>A (p.Arg79Ser or R79S)

The Arg79Cys mutation was reported to be relatively prevalent among Korean venous thromboembolism patients screened for thrombophilia[PMID .24162787OA-icon.png]

OMIM107300
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909547(A;A) rs121909547(T;T)
Alt rs121909547(A;A) rs121909547(T;T)
Reference Rs121909547(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173883864G>A; NC_000001.10:g.173883864G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019620.24, RCV000019631.27,