rs62641228
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs62641228(C;T) |
Make rs62641228(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 18079935 |
Gene | PEX26 |
is a | snp |
is | mentioned by |
dbSNP | rs62641228 |
dbSNP (classic) | rs62641228 |
ClinGen | rs62641228 |
ebi | rs62641228 |
HLI | rs62641228 |
Exac | rs62641228 |
Gnomad | rs62641228 |
Varsome | rs62641228 |
LitVar | rs62641228 |
Map | rs62641228 |
PheGenI | rs62641228 |
Biobank | rs62641228 |
1000 genomes | rs62641228 |
hgdp | rs62641228 |
ensembl | rs62641228 |
geneview | rs62641228 |
scholar | rs62641228 |
rs62641228 | |
pharmgkb | rs62641228 |
gwascentral | rs62641228 |
openSNP | rs62641228 |
23andMe | rs62641228 |
SNPshot | rs62641228 |
SNPdbe | rs62641228 |
MSV3d | rs62641228 |
GWAS Ctlg | rs62641228 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62641228(T;T) |
Alt | rs62641228(T;T) |
Reference | Rs62641228(C;C) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A |
Variation | info |
Gene | PEX26 |
CLNDBN | Peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7A |
Reversed | 0 |
HGVS | NC_000022.10:g.18562701C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002234.3, RCV000402285.1, |
[PMID 15858711] Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.