rs61751507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61751507(C;T) |
Make rs61751507(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 100069757 |
Gene | CPN1 |
is a | snp |
is | mentioned by |
dbSNP | rs61751507 |
dbSNP (classic) | rs61751507 |
ClinGen | rs61751507 |
ebi | rs61751507 |
HLI | rs61751507 |
Exac | rs61751507 |
Gnomad | rs61751507 |
Varsome | rs61751507 |
LitVar | rs61751507 |
Map | rs61751507 |
PheGenI | rs61751507 |
Biobank | rs61751507 |
1000 genomes | rs61751507 |
hgdp | rs61751507 |
ensembl | rs61751507 |
geneview | rs61751507 |
scholar | rs61751507 |
rs61751507 | |
pharmgkb | rs61751507 |
gwascentral | rs61751507 |
openSNP | rs61751507 |
23andMe | rs61751507 |
SNPshot | rs61751507 |
SNPdbe | rs61751507 |
MSV3d | rs61751507 |
GWAS Ctlg | rs61751507 |
GMAF | 0.03214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751507(T;T) |
Alt | rs61751507(T;T) |
Reference | Rs61751507(C;C) |
Significance | Pathogenic |
Disease | Anaphylotoxin inactivator deficiency not specified |
Variation | info |
Gene | CPN1 |
CLNDBN | Anaphylotoxin inactivator deficiency not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.101829514C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007002.2, RCV000455837.1, |