rs61752132
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61752132(C;C) |
Make rs61752132(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 18078510 |
Gene | PEX26 |
is a | snp |
is | mentioned by |
dbSNP | rs61752132 |
dbSNP (classic) | rs61752132 |
ClinGen | rs61752132 |
ebi | rs61752132 |
HLI | rs61752132 |
Exac | rs61752132 |
Gnomad | rs61752132 |
Varsome | rs61752132 |
LitVar | rs61752132 |
Map | rs61752132 |
PheGenI | rs61752132 |
Biobank | rs61752132 |
1000 genomes | rs61752132 |
hgdp | rs61752132 |
ensembl | rs61752132 |
geneview | rs61752132 |
scholar | rs61752132 |
rs61752132 | |
pharmgkb | rs61752132 |
gwascentral | rs61752132 |
openSNP | rs61752132 |
23andMe | rs61752132 |
SNPshot | rs61752132 |
SNPdbe | rs61752132 |
MSV3d | rs61752132 |
GWAS Ctlg | rs61752132 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752132(C;C) |
Alt | rs61752132(C;C) |
Reference | Rs61752132(T;T) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 7B Zellweger syndrome |
Variation | info |
Gene | PEX26 |
CLNDBN | Peroxisome biogenesis disorder 7B Zellweger syndrome |
Reversed | 0 |
HGVS | NC_000022.10:g.18561276T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002240.3, RCV000351940.1, |
[PMID 15858711] Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.