rs690016558
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs690016558(A;T) |
Make rs690016558(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 150056053 |
Gene | CSF1R |
is a | snp |
is | mentioned by |
dbSNP | rs690016558 |
dbSNP (classic) | rs690016558 |
ClinGen | rs690016558 |
ebi | rs690016558 |
HLI | rs690016558 |
Exac | rs690016558 |
Gnomad | rs690016558 |
Varsome | rs690016558 |
LitVar | rs690016558 |
Map | rs690016558 |
PheGenI | rs690016558 |
Biobank | rs690016558 |
1000 genomes | rs690016558 |
hgdp | rs690016558 |
ensembl | rs690016558 |
geneview | rs690016558 |
scholar | rs690016558 |
rs690016558 | |
pharmgkb | rs690016558 |
gwascentral | rs690016558 |
openSNP | rs690016558 |
23andMe | rs690016558 |
SNPshot | rs690016558 |
SNPdbe | rs690016558 |
MSV3d | rs690016558 |
GWAS Ctlg | rs690016558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs690016558(T;T) |
Alt | rs690016558(T;T) |
Reference | Rs690016558(A;A) |
Significance | Pathogenic |
Disease | Hereditary diffuse leukoencephalopathy with spheroids |
Variation | info |
Gene | CSF1R |
CLNDBN | Hereditary diffuse leukoencephalopathy with spheroids |
Reversed | 1 |
HGVS | NC_000005.9:g.149435616T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000149534.1, |