rs112534524
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs112534524(C;T) |
Make rs112534524(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 109760371 |
Gene | CFI |
is a | snp |
is | mentioned by |
dbSNP | rs112534524 |
dbSNP (classic) | rs112534524 |
ClinGen | rs112534524 |
ebi | rs112534524 |
HLI | rs112534524 |
Exac | rs112534524 |
Gnomad | rs112534524 |
Varsome | rs112534524 |
LitVar | rs112534524 |
Map | rs112534524 |
PheGenI | rs112534524 |
Biobank | rs112534524 |
1000 genomes | rs112534524 |
hgdp | rs112534524 |
ensembl | rs112534524 |
geneview | rs112534524 |
scholar | rs112534524 |
rs112534524 | |
pharmgkb | rs112534524 |
gwascentral | rs112534524 |
openSNP | rs112534524 |
23andMe | rs112534524 |
SNPshot | rs112534524 |
SNPdbe | rs112534524 |
MSV3d | rs112534524 |
GWAS Ctlg | rs112534524 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112534524(G;G) rs112534524(T;T) |
Alt | rs112534524(G;G) rs112534524(T;T) |
Reference | Rs112534524(C;C) |
Significance | Pathogenic |
Disease | Atypical hemolytic-uremic syndrome 3 Atypical hemolytic uremic syndrome |
Variation | info |
Gene | CFI |
CLNDBN | Atypical hemolytic-uremic syndrome 3 Atypical hemolytic uremic syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.110681527C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055784.1, RCV000339056.1, |