rs398123302
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123302(-;-) |
Make rs398123302(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 35575968 |
Gene | PEX12 |
is a | snp |
is | mentioned by |
dbSNP | rs398123302 |
dbSNP (classic) | rs398123302 |
ClinGen | rs398123302 |
ebi | rs398123302 |
HLI | rs398123302 |
Exac | rs398123302 |
Gnomad | rs398123302 |
Varsome | rs398123302 |
LitVar | rs398123302 |
Map | rs398123302 |
PheGenI | rs398123302 |
Biobank | rs398123302 |
1000 genomes | rs398123302 |
hgdp | rs398123302 |
ensembl | rs398123302 |
geneview | rs398123302 |
scholar | rs398123302 |
rs398123302 | |
pharmgkb | rs398123302 |
gwascentral | rs398123302 |
openSNP | rs398123302 |
23andMe | rs398123302 |
SNPshot | rs398123302 |
SNPdbe | rs398123302 |
MSV3d | rs398123302 |
GWAS Ctlg | rs398123302 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123302(-;-) |
Alt | rs398123302(-;-) |
Reference | Rs398123302(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PEX12 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.33902987delG |
CLNSRC | ClinVar |
CLNACC | RCV000078564.5, |