rs281860274
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs281860274(C;C) |
Make rs281860274(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 150056280 |
Gene | CSF1R |
is a | snp |
is | mentioned by |
dbSNP | rs281860274 |
dbSNP (classic) | rs281860274 |
ClinGen | rs281860274 |
ebi | rs281860274 |
HLI | rs281860274 |
Exac | rs281860274 |
Gnomad | rs281860274 |
Varsome | rs281860274 |
LitVar | rs281860274 |
Map | rs281860274 |
PheGenI | rs281860274 |
Biobank | rs281860274 |
1000 genomes | rs281860274 |
hgdp | rs281860274 |
ensembl | rs281860274 |
geneview | rs281860274 |
scholar | rs281860274 |
rs281860274 | |
pharmgkb | rs281860274 |
gwascentral | rs281860274 |
openSNP | rs281860274 |
23andMe | rs281860274 |
SNPshot | rs281860274 |
SNPdbe | rs281860274 |
MSV3d | rs281860274 |
GWAS Ctlg | rs281860274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281860274(C;C) |
Alt | rs281860274(C;C) |
Reference | Rs281860274(T;T) |
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.149435843A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022687.27, |