rs515726204
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACAGCCCCCCG;ACAGCCCCCCG) | 0 | common in clinvar |
Make rs515726204(-;-) |
Make rs515726204(-;ACAGCCCCCCG) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 29702957 |
Gene | C19orf12 |
is a | snp |
is | mentioned by |
dbSNP | rs515726204 |
dbSNP (classic) | rs515726204 |
ClinGen | rs515726204 |
ebi | rs515726204 |
HLI | rs515726204 |
Exac | rs515726204 |
Gnomad | rs515726204 |
Varsome | rs515726204 |
LitVar | rs515726204 |
Map | rs515726204 |
PheGenI | rs515726204 |
Biobank | rs515726204 |
1000 genomes | rs515726204 |
hgdp | rs515726204 |
ensembl | rs515726204 |
geneview | rs515726204 |
scholar | rs515726204 |
rs515726204 | |
pharmgkb | rs515726204 |
gwascentral | rs515726204 |
openSNP | rs515726204 |
23andMe | rs515726204 |
SNPshot | rs515726204 |
SNPdbe | rs515726204 |
MSV3d | rs515726204 |
GWAS Ctlg | rs515726204 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726204(-;-) |
Alt | rs515726204(-;-) |
Reference | Rs515726204(ACAGCCCCCCG;ACAGCCCCCCG) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 4 |
Variation | info |
Gene | C19orf12 |
CLNDBN | Neurodegeneration with brain iron accumulation 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.30193864_30193874delACAGCCCCCCG |
CLNSRC | ClinVar |
CLNACC | RCV000119028.2, |