rs281875170
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4.1 | Hereditary angioedema |
(G;G) | 0 | common in clinvar |
Make rs281875170(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 57600377 |
Gene | SERPING1 |
is a | snp |
is | mentioned by |
dbSNP | rs281875170 |
dbSNP (classic) | rs281875170 |
ClinGen | rs281875170 |
ebi | rs281875170 |
HLI | rs281875170 |
Exac | rs281875170 |
Gnomad | rs281875170 |
Varsome | rs281875170 |
LitVar | rs281875170 |
Map | rs281875170 |
PheGenI | rs281875170 |
Biobank | rs281875170 |
1000 genomes | rs281875170 |
hgdp | rs281875170 |
ensembl | rs281875170 |
geneview | rs281875170 |
scholar | rs281875170 |
rs281875170 | |
pharmgkb | rs281875170 |
gwascentral | rs281875170 |
openSNP | rs281875170 |
23andMe | rs281875170 |
SNPshot | rs281875170 |
SNPdbe | rs281875170 |
MSV3d | rs281875170 |
GWAS Ctlg | rs281875170 |
Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg)
23andMe name: i6018380
ClinVar | |
---|---|
Risk | rs281875170(A;A) |
Alt | rs281875170(A;A) |
Reference | Rs281875170(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SERPING1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.57367850G>A |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059091.1, |