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rs387906575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906575(C;C)
Make rs387906575(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173914893
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs387906575
dbSNP (classic)rs387906575
ClinGenrs387906575
ebirs387906575
HLIrs387906575
Exacrs387906575
Gnomadrs387906575
Varsomers387906575
LitVarrs387906575
Maprs387906575
PheGenIrs387906575
Biobankrs387906575
1000 genomesrs387906575
hgdprs387906575
ensemblrs387906575
geneviewrs387906575
scholarrs387906575
googlers387906575
pharmgkbrs387906575
gwascentralrs387906575
openSNPrs387906575
23andMers387906575
SNPshotrs387906575
SNPdbers387906575
MSV3drs387906575
GWAS Ctlgrs387906575
Max Magnitude0
ClinVar
Risk rs387906575(C;C)
Alt rs387906575(C;C)
Reference Rs387906575(T;T)
Significance Pathogenic
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173884031A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019656.27,