rs1057520366
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 4.1 | Hereditary angioedema |
Make rs1057520366(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 57606195 |
Gene | SERPING1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520366 |
dbSNP (classic) | rs1057520366 |
ClinGen | rs1057520366 |
ebi | rs1057520366 |
HLI | rs1057520366 |
Exac | rs1057520366 |
Gnomad | rs1057520366 |
Varsome | rs1057520366 |
LitVar | rs1057520366 |
Map | rs1057520366 |
PheGenI | rs1057520366 |
Biobank | rs1057520366 |
1000 genomes | rs1057520366 |
hgdp | rs1057520366 |
ensembl | rs1057520366 |
geneview | rs1057520366 |
scholar | rs1057520366 |
rs1057520366 | |
pharmgkb | rs1057520366 |
gwascentral | rs1057520366 |
openSNP | rs1057520366 |
23andMe | rs1057520366 |
SNPshot | rs1057520366 |
SNPdbe | rs1057520366 |
MSV3d | rs1057520366 |
GWAS Ctlg | rs1057520366 |
Max Magnitude | 4.1 |
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, |