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rs2227624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2227624(A;A)
Make rs2227624(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position173914872
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs2227624
dbSNP (classic)rs2227624
ClinGenrs2227624
ebirs2227624
HLIrs2227624
Exacrs2227624
Gnomadrs2227624
Varsomers2227624
LitVarrs2227624
Maprs2227624
PheGenIrs2227624
Biobankrs2227624
1000 genomesrs2227624
hgdprs2227624
ensemblrs2227624
geneviewrs2227624
scholarrs2227624
googlers2227624
pharmgkbrs2227624
gwascentralrs2227624
openSNPrs2227624
23andMers2227624
SNPshotrs2227624
SNPdbers2227624
MSV3drs2227624
GWAS Ctlgrs2227624
Max Magnitude0
? (A;A) (A;T) (T;T) 28


ClinVar
Risk rs2227624(A;A)
Alt rs2227624(A;A)
Reference Rs2227624(T;T)
Significance Other
Disease Antithrombin III deficiency
Variation info
Gene SERPINC1
CLNDBN Antithrombin III deficiency
Reversed 1
HGVS NC_000001.10:g.173884010A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019628.27,