rs879253765
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs879253765(-;-) |
Make rs879253765(-;CA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 22409965 |
Gene | SLC39A14 |
is a | snp |
is | mentioned by |
dbSNP | rs879253765 |
dbSNP (classic) | rs879253765 |
ClinGen | rs879253765 |
ebi | rs879253765 |
HLI | rs879253765 |
Exac | rs879253765 |
Gnomad | rs879253765 |
Varsome | rs879253765 |
LitVar | rs879253765 |
Map | rs879253765 |
PheGenI | rs879253765 |
Biobank | rs879253765 |
1000 genomes | rs879253765 |
hgdp | rs879253765 |
ensembl | rs879253765 |
geneview | rs879253765 |
scholar | rs879253765 |
rs879253765 | |
pharmgkb | rs879253765 |
gwascentral | rs879253765 |
openSNP | rs879253765 |
23andMe | rs879253765 |
SNPshot | rs879253765 |
SNPdbe | rs879253765 |
MSV3d | rs879253765 |
GWAS Ctlg | rs879253765 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253765(-;-) |
Alt | rs879253765(-;-) |
Reference | Rs879253765(CA;CA) |
Significance | Pathogenic |
Disease | Hypermanganesemia with dystonia 2 |
Variation | info |
Gene | SLC39A14 |
CLNDBN | Hypermanganesemia with dystonia 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.22267478_22267479delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234924.2, |