rs515726205
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs515726205(C;T) |
Make rs515726205(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 29702966 |
Gene | C19orf12 |
is a | snp |
is | mentioned by |
dbSNP | rs515726205 |
dbSNP (classic) | rs515726205 |
ClinGen | rs515726205 |
ebi | rs515726205 |
HLI | rs515726205 |
Exac | rs515726205 |
Gnomad | rs515726205 |
Varsome | rs515726205 |
LitVar | rs515726205 |
Map | rs515726205 |
PheGenI | rs515726205 |
Biobank | rs515726205 |
1000 genomes | rs515726205 |
hgdp | rs515726205 |
ensembl | rs515726205 |
geneview | rs515726205 |
scholar | rs515726205 |
rs515726205 | |
pharmgkb | rs515726205 |
gwascentral | rs515726205 |
openSNP | rs515726205 |
23andMe | rs515726205 |
SNPshot | rs515726205 |
SNPdbe | rs515726205 |
MSV3d | rs515726205 |
GWAS Ctlg | rs515726205 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726205(T;T) |
Alt | rs515726205(T;T) |
Reference | Rs515726205(C;C) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 4 Adult-onset night blindness Dystonia Mental deterioration Peripheral visual field loss Tremor |
Variation | info |
Gene | C19orf12 |
CLNDBN | Neurodegeneration with brain iron accumulation 4 Adult-onset night blindness Dystonia Mental deterioration Peripheral visual field loss Tremor |
Reversed | 0 |
HGVS | NC_000019.9:g.30193873C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119029.2, RCV000414809.1, |