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rs978962357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 4.1 Hereditary angioedema
(T;T) 0 common in clinvar


Make rs978962357(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position57614553
GeneSERPING1
is asnp
is mentioned by
dbSNPrs978962357
dbSNP (classic)rs978962357
ClinGenrs978962357
ebirs978962357
HLIrs978962357
Exacrs978962357
Gnomadrs978962357
Varsomers978962357
LitVarrs978962357
Maprs978962357
PheGenIrs978962357
Biobankrs978962357
1000 genomesrs978962357
hgdprs978962357
ensemblrs978962357
geneviewrs978962357
scholarrs978962357
googlers978962357
pharmgkbrs978962357
gwascentralrs978962357
openSNPrs978962357
23andMers978962357
23andMe allrs978962357
SNPshotrs978962357
SNPdbers978962357
MSV3drs978962357
GWAS Ctlgrs978962357
Max Magnitude4.1

NM_000062.2(SERPING1):c.1475T>C (p.Met492Thr)

23andMe name for c.1475T>A: i6018333

ClinVar
Risk rs978962357(C;C)
Alt rs978962357(C;C)
Reference Rs978962357(T;T)
Significance Probable-Pathogenic
Disease Angioedema
Variation info
Gene
CLNDBN Angioedema
Reversed 0
HGVS NC_000011.9:g.57382026T>C
CLNSRC
CLNACC RCV000490705.1,