rs864309661
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGG;TGG) | 0 | common in clinvar |
Make rs864309661(-;-) |
Make rs864309661(-;TGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 49077715 |
Gene | WDR45 |
is a | snp |
is | mentioned by |
dbSNP | rs864309661 |
dbSNP (classic) | rs864309661 |
ClinGen | rs864309661 |
ebi | rs864309661 |
HLI | rs864309661 |
Exac | rs864309661 |
Gnomad | rs864309661 |
Varsome | rs864309661 |
LitVar | rs864309661 |
Map | rs864309661 |
PheGenI | rs864309661 |
Biobank | rs864309661 |
1000 genomes | rs864309661 |
hgdp | rs864309661 |
ensembl | rs864309661 |
geneview | rs864309661 |
scholar | rs864309661 |
rs864309661 | |
pharmgkb | rs864309661 |
gwascentral | rs864309661 |
openSNP | rs864309661 |
23andMe | rs864309661 |
SNPshot | rs864309661 |
SNPdbe | rs864309661 |
MSV3d | rs864309661 |
GWAS Ctlg | rs864309661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309661(-;-) |
Alt | rs864309661(-;-) |
Reference | Rs864309661(TGG;TGG) |
Significance | Probable-Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 5 |
Variation | info |
Gene | WDR45 |
CLNDBN | Neurodegeneration with brain iron accumulation 5 |
Reversed | 1 |
HGVS | NC_000023.10:g.48935374_48935376delCCA |
CLNSRC | |
CLNACC | RCV000203242.1, |