rs1064793917
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGTTCCA) | 4.1 | Hereditary angioedema |
(AGTTCCA;AGTTCCA) | 0 | common/normal |
(TCCAAGT;TCCAAGT) | 0 | common in clinvar |
Make rs1064793917(-;-) |
Chromosome | 11 |
Position | 57611856 |
Gene | SERPING1 |
is a | snp |
is | mentioned by |
dbSNP | rs1064793917 |
dbSNP (classic) | rs1064793917 |
ClinGen | rs1064793917 |
ebi | rs1064793917 |
HLI | rs1064793917 |
Exac | rs1064793917 |
Gnomad | rs1064793917 |
Varsome | rs1064793917 |
LitVar | rs1064793917 |
Map | rs1064793917 |
PheGenI | rs1064793917 |
Biobank | rs1064793917 |
1000 genomes | rs1064793917 |
hgdp | rs1064793917 |
ensembl | rs1064793917 |
geneview | rs1064793917 |
scholar | rs1064793917 |
rs1064793917 | |
pharmgkb | rs1064793917 |
gwascentral | rs1064793917 |
openSNP | rs1064793917 |
23andMe | rs1064793917 |
SNPshot | rs1064793917 |
SNPdbe | rs1064793917 |
MSV3d | rs1064793917 |
GWAS Ctlg | rs1064793917 |
Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.1169_1175delAGTTCCA (p.Lys390Serfs)
ClinVar | |
---|---|
Risk | rs1064793917(-;-) |
Alt | rs1064793917(-;-) |
Reference | Rs1064793917(TCCAAGT;TCCAAGT) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SERPING1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.57379329_57379335delAGTTCCA |
CLNSRC | |
CLNACC | RCV000482881.1, |