rs398123303
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs398123303(-;-) |
Make rs398123303(-;TG) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 42969696 |
Gene | PEX6 |
is a | snp |
is | mentioned by |
dbSNP | rs398123303 |
dbSNP (classic) | rs398123303 |
ClinGen | rs398123303 |
ebi | rs398123303 |
HLI | rs398123303 |
Exac | rs398123303 |
Gnomad | rs398123303 |
Varsome | rs398123303 |
LitVar | rs398123303 |
Map | rs398123303 |
PheGenI | rs398123303 |
Biobank | rs398123303 |
1000 genomes | rs398123303 |
hgdp | rs398123303 |
ensembl | rs398123303 |
geneview | rs398123303 |
scholar | rs398123303 |
rs398123303 | |
pharmgkb | rs398123303 |
gwascentral | rs398123303 |
openSNP | rs398123303 |
23andMe | rs398123303 |
SNPshot | rs398123303 |
SNPdbe | rs398123303 |
MSV3d | rs398123303 |
GWAS Ctlg | rs398123303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123303(-;-) |
Alt | rs398123303(-;-) |
Reference | Rs398123303(TG;TG) |
Significance | Pathogenic |
Disease | not provided Peroxisome biogenesis disorder 4a (zellweger) |
Variation | info |
Gene | PEX6 |
CLNDBN | not provided Peroxisome biogenesis disorder 4a (zellweger) |
Reversed | 1 |
HGVS | NC_000006.11:g.42937434_42937435delCA |
CLNSRC | ClinVar |
CLNACC | RCV000078566.3, RCV000178748.1, |