rs879253764
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879253764(G;T) |
Make rs879253764(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 22408352 |
Gene | SLC39A14 |
is a | snp |
is | mentioned by |
dbSNP | rs879253764 |
dbSNP (classic) | rs879253764 |
ClinGen | rs879253764 |
ebi | rs879253764 |
HLI | rs879253764 |
Exac | rs879253764 |
Gnomad | rs879253764 |
Varsome | rs879253764 |
LitVar | rs879253764 |
Map | rs879253764 |
PheGenI | rs879253764 |
Biobank | rs879253764 |
1000 genomes | rs879253764 |
hgdp | rs879253764 |
ensembl | rs879253764 |
geneview | rs879253764 |
scholar | rs879253764 |
rs879253764 | |
pharmgkb | rs879253764 |
gwascentral | rs879253764 |
openSNP | rs879253764 |
23andMe | rs879253764 |
SNPshot | rs879253764 |
SNPdbe | rs879253764 |
MSV3d | rs879253764 |
GWAS Ctlg | rs879253764 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253764(T;T) |
Alt | rs879253764(T;T) |
Reference | Rs879253764(G;G) |
Significance | Pathogenic |
Disease | Hypermanganesemia with dystonia 2 |
Variation | info |
Gene | SLC39A14 |
CLNDBN | Hypermanganesemia with dystonia 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.22265865G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234923.2, |