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rs121909555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909555(C;T)
Make rs121909555(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173903968
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909555
dbSNP (classic)rs121909555
ClinGenrs121909555
ebirs121909555
HLIrs121909555
Exacrs121909555
Gnomadrs121909555
Varsomers121909555
LitVarrs121909555
Maprs121909555
PheGenIrs121909555
Biobankrs121909555
1000 genomesrs121909555
hgdprs121909555
ensemblrs121909555
geneviewrs121909555
scholarrs121909555
googlers121909555
pharmgkbrs121909555
gwascentralrs121909555
openSNPrs121909555
23andMers121909555
SNPshotrs121909555
SNPdbers121909555
MSV3drs121909555
GWAS Ctlgrs121909555
Max Magnitude0
OMIM107300
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121909555(T;T)
Alt rs121909555(T;T)
Reference Rs121909555(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173873106G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019633.27,