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rs28929469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28929469(C;T)
Make rs28929469(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173914795
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs28929469
dbSNP (classic)rs28929469
ClinGenrs28929469
ebirs28929469
HLIrs28929469
Exacrs28929469
Gnomadrs28929469
Varsomers28929469
LitVarrs28929469
Maprs28929469
PheGenIrs28929469
Biobankrs28929469
1000 genomesrs28929469
hgdprs28929469
ensemblrs28929469
geneviewrs28929469
scholarrs28929469
googlers28929469
pharmgkbrs28929469
gwascentralrs28929469
openSNPrs28929469
23andMers28929469
SNPshotrs28929469
SNPdbers28929469
MSV3drs28929469
GWAS Ctlgrs28929469
Max Magnitude0
OMIM107300
DescAT-III ROUEN IV
Variant0026
Relatedalso


ClinVar
Risk rs28929469(T;T)
Alt rs28929469(T;T)
Reference Rs28929469(C;C)
Significance Pathogenic
Disease Antithrombin III deficiency not provided
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency not provided
Reversed 1
HGVS NC_000001.10:g.173883933G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019638.23, RCV000420779.1,