rs201363394
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of a hereditary angioedema mutation |
(T;T) | 4.1 | Hereditary angioedema, type I |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 11 |
Position | 57611885 |
Gene | SERPING1 |
is a | snp |
is | mentioned by |
dbSNP | rs201363394 |
dbSNP (classic) | rs201363394 |
ClinGen | rs201363394 |
ebi | rs201363394 |
HLI | rs201363394 |
Exac | rs201363394 |
Gnomad | rs201363394 |
Varsome | rs201363394 |
LitVar | rs201363394 |
Map | rs201363394 |
PheGenI | rs201363394 |
Biobank | rs201363394 |
1000 genomes | rs201363394 |
hgdp | rs201363394 |
ensembl | rs201363394 |
geneview | rs201363394 |
scholar | rs201363394 |
rs201363394 | |
pharmgkb | rs201363394 |
gwascentral | rs201363394 |
openSNP | rs201363394 |
23andMe | rs201363394 |
SNPshot | rs201363394 |
SNPdbe | rs201363394 |
MSV3d | rs201363394 |
GWAS Ctlg | rs201363394 |
Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.1198C>T (p.Arg400Cys)
23andMe name: i6018370