rs1085307611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 4.1 | Hereditary angioedema |
(C;C) | 0 | common in clinvar |
Make rs1085307611(-;-) |
Chromosome | 11 |
Position | 57606454 |
Gene | SERPING1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307611 |
dbSNP (classic) | rs1085307611 |
ClinGen | rs1085307611 |
ebi | rs1085307611 |
HLI | rs1085307611 |
Exac | rs1085307611 |
Gnomad | rs1085307611 |
Varsome | rs1085307611 |
LitVar | rs1085307611 |
Map | rs1085307611 |
PheGenI | rs1085307611 |
Biobank | rs1085307611 |
1000 genomes | rs1085307611 |
hgdp | rs1085307611 |
ensembl | rs1085307611 |
geneview | rs1085307611 |
scholar | rs1085307611 |
rs1085307611 | |
pharmgkb | rs1085307611 |
gwascentral | rs1085307611 |
openSNP | rs1085307611 |
23andMe | rs1085307611 |
SNPshot | rs1085307611 |
SNPdbe | rs1085307611 |
MSV3d | rs1085307611 |
GWAS Ctlg | rs1085307611 |
Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.936delC (p.His314Thrfs)
ClinVar | |
---|---|
Risk | rs1085307611(-;-) |
Alt | rs1085307611(-;-) |
Reference | Rs1085307611(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SERPING1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.57373927delC |
CLNSRC | |
CLNACC | RCV000489334.1, |