rs797046101
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797046101(C;T) |
Make rs797046101(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 49076469 |
Gene | WDR45 |
is a | snp |
is | mentioned by |
dbSNP | rs797046101 |
dbSNP (classic) | rs797046101 |
ClinGen | rs797046101 |
ebi | rs797046101 |
HLI | rs797046101 |
Exac | rs797046101 |
Gnomad | rs797046101 |
Varsome | rs797046101 |
LitVar | rs797046101 |
Map | rs797046101 |
PheGenI | rs797046101 |
Biobank | rs797046101 |
1000 genomes | rs797046101 |
hgdp | rs797046101 |
ensembl | rs797046101 |
geneview | rs797046101 |
scholar | rs797046101 |
rs797046101 | |
pharmgkb | rs797046101 |
gwascentral | rs797046101 |
openSNP | rs797046101 |
23andMe | rs797046101 |
SNPshot | rs797046101 |
SNPdbe | rs797046101 |
MSV3d | rs797046101 |
GWAS Ctlg | rs797046101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046101(T;T) |
Alt | rs797046101(T;T) |
Reference | Rs797046101(C;C) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accululation 5 not provided Neurodegeneration with brain iron accumulation 5 |
Variation | info |
Gene | WDR45 |
CLNDBN | Neurodegeneration with brain iron accululation 5 not provided Neurodegeneration with brain iron accumulation 5 |
Reversed | 1 |
HGVS | NC_000023.10:g.48934128G>A |
CLNSRC | |
CLNACC | RCV000193107.1, RCV000413483.1, RCV000477948.1, |