rs281860286
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs281860286(C;C) |
Make rs281860286(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 219927941 |
Gene | LOC107985281, SLC30A10 |
is a | snp |
is | mentioned by |
dbSNP | rs281860286 |
dbSNP (classic) | rs281860286 |
ClinGen | rs281860286 |
ebi | rs281860286 |
HLI | rs281860286 |
Exac | rs281860286 |
Gnomad | rs281860286 |
Varsome | rs281860286 |
LitVar | rs281860286 |
Map | rs281860286 |
PheGenI | rs281860286 |
Biobank | rs281860286 |
1000 genomes | rs281860286 |
hgdp | rs281860286 |
ensembl | rs281860286 |
geneview | rs281860286 |
scholar | rs281860286 |
rs281860286 | |
pharmgkb | rs281860286 |
gwascentral | rs281860286 |
openSNP | rs281860286 |
23andMe | rs281860286 |
SNPshot | rs281860286 |
SNPdbe | rs281860286 |
MSV3d | rs281860286 |
GWAS Ctlg | rs281860286 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281860286(C;C) |
Alt | rs281860286(C;C) |
Reference | Rs281860286(T;T) |
Significance | Pathogenic |
Disease | Hypermanganesemia with dystonia 1 |
Variation | info |
Gene | SLC30A10 |
CLNDBN | Hypermanganesemia with dystonia 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.220101283A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000031959.1, |