rs587777246
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777246(A;A) |
Make rs587777246(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 150056218 |
Gene | CSF1R |
is a | snp |
is | mentioned by |
dbSNP | rs587777246 |
dbSNP (classic) | rs587777246 |
ClinGen | rs587777246 |
ebi | rs587777246 |
HLI | rs587777246 |
Exac | rs587777246 |
Gnomad | rs587777246 |
Varsome | rs587777246 |
LitVar | rs587777246 |
Map | rs587777246 |
PheGenI | rs587777246 |
Biobank | rs587777246 |
1000 genomes | rs587777246 |
hgdp | rs587777246 |
ensembl | rs587777246 |
geneview | rs587777246 |
scholar | rs587777246 |
rs587777246 | |
pharmgkb | rs587777246 |
gwascentral | rs587777246 |
openSNP | rs587777246 |
23andMe | rs587777246 |
SNPshot | rs587777246 |
SNPdbe | rs587777246 |
MSV3d | rs587777246 |
GWAS Ctlg | rs587777246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777246(A;A) Rs587777246(C;C) |
Alt | rs587777246(A;A) Rs587777246(C;C) |
Reference | Rs587777246(G;G) |
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.149435781C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000106404.3, |