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

rs121909570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909570(A;C)
Make rs121909570(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position173911923
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909570
dbSNP (classic)rs121909570
ClinGenrs121909570
ebirs121909570
HLIrs121909570
Exacrs121909570
Gnomadrs121909570
Varsomers121909570
LitVarrs121909570
Maprs121909570
PheGenIrs121909570
Biobankrs121909570
1000 genomesrs121909570
hgdprs121909570
ensemblrs121909570
geneviewrs121909570
scholarrs121909570
googlers121909570
pharmgkbrs121909570
gwascentralrs121909570
openSNPrs121909570
23andMers121909570
SNPshotrs121909570
SNPdbers121909570
MSV3drs121909570
GWAS Ctlgrs121909570
Max Magnitude0
OMIM107300
Desc
Variant0045
Relatedalso
ClinVar
Risk rs121909570(C;C)
Alt rs121909570(C;C)
Reference Rs121909570(A;A)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173881061T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019657.27,