rs368209619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs368209619(-;-) |
Make rs368209619(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 196995787 |
Gene | CFHR5 |
is a | snp |
is | mentioned by |
dbSNP | rs368209619 |
dbSNP (classic) | rs368209619 |
ClinGen | rs368209619 |
ebi | rs368209619 |
HLI | rs368209619 |
Exac | rs368209619 |
Gnomad | rs368209619 |
Varsome | rs368209619 |
LitVar | rs368209619 |
Map | rs368209619 |
PheGenI | rs368209619 |
Biobank | rs368209619 |
1000 genomes | rs368209619 |
hgdp | rs368209619 |
ensembl | rs368209619 |
geneview | rs368209619 |
scholar | rs368209619 |
rs368209619 | |
pharmgkb | rs368209619 |
gwascentral | rs368209619 |
openSNP | rs368209619 |
23andMe | rs368209619 |
SNPshot | rs368209619 |
SNPdbe | rs368209619 |
MSV3d | rs368209619 |
GWAS Ctlg | rs368209619 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368209619(-;-) |
Alt | rs368209619(-;-) |
Reference | Rs368209619(A;A) |
Significance | Pathogenic |
Disease | CFHR5 deficiency |
Variation | info |
Gene | CFHR5 |
CLNDBN | CFHR5 deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.196964917delA |
CLNSRC | University Hospital of Geneva |
CLNACC | RCV000211432.1, |