rs398123408
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398123408(-;CAGTGTGGA) |
Make rs398123408(CAGTGTGGA;CAGTGTGGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 92504842 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123408 |
dbSNP (classic) | rs398123408 |
ClinGen | rs398123408 |
ebi | rs398123408 |
HLI | rs398123408 |
Exac | rs398123408 |
Gnomad | rs398123408 |
Varsome | rs398123408 |
LitVar | rs398123408 |
Map | rs398123408 |
PheGenI | rs398123408 |
Biobank | rs398123408 |
1000 genomes | rs398123408 |
hgdp | rs398123408 |
ensembl | rs398123408 |
geneview | rs398123408 |
scholar | rs398123408 |
rs398123408 | |
pharmgkb | rs398123408 |
gwascentral | rs398123408 |
openSNP | rs398123408 |
23andMe | rs398123408 |
SNPshot | rs398123408 |
SNPdbe | rs398123408 |
MSV3d | rs398123408 |
GWAS Ctlg | rs398123408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123408(CAGTGTGGA;CAGTGTGGA) |
Alt | rs398123408(CAGTGTGGA;CAGTGTGGA) |
Reference | Rs398123408(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PEX1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.92134157_92134165dupTCCACACTG |
CLNSRC | HGMD |
CLNACC | RCV000078917.3, |