rs978962357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 4.1 | Hereditary angioedema |
(T;T) | 0 | common in clinvar |
Make rs978962357(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 57614553 |
Gene | SERPING1 |
is a | snp |
is | mentioned by |
dbSNP | rs978962357 |
dbSNP (classic) | rs978962357 |
ClinGen | rs978962357 |
ebi | rs978962357 |
HLI | rs978962357 |
Exac | rs978962357 |
Gnomad | rs978962357 |
Varsome | rs978962357 |
LitVar | rs978962357 |
Map | rs978962357 |
PheGenI | rs978962357 |
Biobank | rs978962357 |
1000 genomes | rs978962357 |
hgdp | rs978962357 |
ensembl | rs978962357 |
geneview | rs978962357 |
scholar | rs978962357 |
rs978962357 | |
pharmgkb | rs978962357 |
gwascentral | rs978962357 |
openSNP | rs978962357 |
23andMe | rs978962357 |
SNPshot | rs978962357 |
SNPdbe | rs978962357 |
MSV3d | rs978962357 |
GWAS Ctlg | rs978962357 |
Max Magnitude | 4.1 |
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, |