rs398123409
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123409(C;T) |
Make rs398123409(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 92502076 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123409 |
dbSNP (classic) | rs398123409 |
ClinGen | rs398123409 |
ebi | rs398123409 |
HLI | rs398123409 |
Exac | rs398123409 |
Gnomad | rs398123409 |
Varsome | rs398123409 |
LitVar | rs398123409 |
Map | rs398123409 |
PheGenI | rs398123409 |
Biobank | rs398123409 |
1000 genomes | rs398123409 |
hgdp | rs398123409 |
ensembl | rs398123409 |
geneview | rs398123409 |
scholar | rs398123409 |
rs398123409 | |
pharmgkb | rs398123409 |
gwascentral | rs398123409 |
openSNP | rs398123409 |
23andMe | rs398123409 |
SNPshot | rs398123409 |
SNPdbe | rs398123409 |
MSV3d | rs398123409 |
GWAS Ctlg | rs398123409 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123409(T;T) |
Alt | rs398123409(T;T) |
Reference | Rs398123409(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PEX1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.92131390G>A |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000078919.4, |