rs750281602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs750281602(C;G) |
Make rs750281602(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 22419626 |
Gene | SLC39A14 |
is a | snp |
is | mentioned by |
dbSNP | rs750281602 |
dbSNP (classic) | rs750281602 |
ClinGen | rs750281602 |
ebi | rs750281602 |
HLI | rs750281602 |
Exac | rs750281602 |
Gnomad | rs750281602 |
Varsome | rs750281602 |
LitVar | rs750281602 |
Map | rs750281602 |
PheGenI | rs750281602 |
Biobank | rs750281602 |
1000 genomes | rs750281602 |
hgdp | rs750281602 |
ensembl | rs750281602 |
geneview | rs750281602 |
scholar | rs750281602 |
rs750281602 | |
pharmgkb | rs750281602 |
gwascentral | rs750281602 |
openSNP | rs750281602 |
23andMe | rs750281602 |
SNPshot | rs750281602 |
SNPdbe | rs750281602 |
MSV3d | rs750281602 |
GWAS Ctlg | rs750281602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750281602(G;G) rs750281602(T;T) |
Alt | rs750281602(G;G) rs750281602(T;T) |
Reference | Rs750281602(C;C) |
Significance | Pathogenic |
Disease | Hypermanganesemia with dystonia 2 |
Variation | info |
Gene | SLC39A14 |
CLNDBN | Hypermanganesemia with dystonia 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.22277139C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234922.1, |