rs104894667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894667(A;A) |
Make rs104894667(A;C) |
Reference | GRCh37 37.1/132 |
Chromosome | 19 |
Position | 860686 |
Gene | CFD |
is a | snp |
is | mentioned by |
dbSNP | rs104894667 |
dbSNP (classic) | rs104894667 |
ClinGen | rs104894667 |
ebi | rs104894667 |
HLI | rs104894667 |
Exac | rs104894667 |
Gnomad | rs104894667 |
Varsome | rs104894667 |
LitVar | rs104894667 |
Map | rs104894667 |
PheGenI | rs104894667 |
Biobank | rs104894667 |
1000 genomes | rs104894667 |
hgdp | rs104894667 |
ensembl | rs104894667 |
geneview | rs104894667 |
scholar | rs104894667 |
rs104894667 | |
pharmgkb | rs104894667 |
gwascentral | rs104894667 |
openSNP | rs104894667 |
23andMe | rs104894667 |
SNPshot | rs104894667 |
SNPdbe | rs104894667 |
MSV3d | rs104894667 |
GWAS Ctlg | rs104894667 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894667(A;A) |
Alt | rs104894667(A;A) |
Reference | Rs104894667(C;C) |
Significance | Pathogenic |
Disease | Complement factor d deficiency |
Variation | info |
Gene | CFD |
CLNDBN | Complement factor d deficiency |
Reversed | 0 |
HGVS | NC_000019.9:g.860686C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018032.27, |