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rs1057520366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 4.1 Hereditary angioedema
Make rs1057520366(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position57606195
GeneSERPING1
is asnp
is mentioned by
dbSNPrs1057520366
dbSNP (classic)rs1057520366
ClinGenrs1057520366
ebirs1057520366
HLIrs1057520366
Exacrs1057520366
Gnomadrs1057520366
Varsomers1057520366
LitVarrs1057520366
Maprs1057520366
PheGenIrs1057520366
Biobankrs1057520366
1000 genomesrs1057520366
hgdprs1057520366
ensemblrs1057520366
geneviewrs1057520366
scholarrs1057520366
googlers1057520366
pharmgkbrs1057520366
gwascentralrs1057520366
openSNPrs1057520366
23andMers1057520366
SNPshotrs1057520366
SNPdbers1057520366
MSV3drs1057520366
GWAS Ctlgrs1057520366
Max Magnitude4.1

NM_000062.2(SERPING1):c.871A>C (p.Asn291His)

23andMe name: i6018345

ClinVar
Risk rs1057520366(C;C)
Alt rs1057520366(C;C)
Reference Rs1057520366(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene SERPING1
CLNDBN not provided
Reversed 0
HGVS NC_000011.9:g.57373668A>C
CLNSRC
CLNACC RCV000423987.1,