rs879253763
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879253763(G;G) |
Make rs879253763(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 22408331 |
Gene | SLC39A14 |
is a | snp |
is | mentioned by |
dbSNP | rs879253763 |
dbSNP (classic) | rs879253763 |
ClinGen | rs879253763 |
ebi | rs879253763 |
HLI | rs879253763 |
Exac | rs879253763 |
Gnomad | rs879253763 |
Varsome | rs879253763 |
LitVar | rs879253763 |
Map | rs879253763 |
PheGenI | rs879253763 |
Biobank | rs879253763 |
1000 genomes | rs879253763 |
hgdp | rs879253763 |
ensembl | rs879253763 |
geneview | rs879253763 |
scholar | rs879253763 |
rs879253763 | |
pharmgkb | rs879253763 |
gwascentral | rs879253763 |
openSNP | rs879253763 |
23andMe | rs879253763 |
SNPshot | rs879253763 |
SNPdbe | rs879253763 |
MSV3d | rs879253763 |
GWAS Ctlg | rs879253763 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253763(G;G) |
Alt | rs879253763(G;G) |
Reference | Rs879253763(T;T) |
Significance | Pathogenic |
Disease | Hypermanganesemia with dystonia 2 |
Variation | info |
Gene | SLC39A14 |
CLNDBN | Hypermanganesemia with dystonia 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.22265844T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234926.1, |