rs61752095
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs61752095(C;G) |
Make rs61752095(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 2406526 |
Gene | PEX10 |
is a | snp |
is | mentioned by |
dbSNP | rs61752095 |
dbSNP (classic) | rs61752095 |
ClinGen | rs61752095 |
ebi | rs61752095 |
HLI | rs61752095 |
Exac | rs61752095 |
Gnomad | rs61752095 |
Varsome | rs61752095 |
LitVar | rs61752095 |
Map | rs61752095 |
PheGenI | rs61752095 |
Biobank | rs61752095 |
1000 genomes | rs61752095 |
hgdp | rs61752095 |
ensembl | rs61752095 |
geneview | rs61752095 |
scholar | rs61752095 |
rs61752095 | |
pharmgkb | rs61752095 |
gwascentral | rs61752095 |
openSNP | rs61752095 |
23andMe | rs61752095 |
SNPshot | rs61752095 |
SNPdbe | rs61752095 |
MSV3d | rs61752095 |
GWAS Ctlg | rs61752095 |
Max Magnitude | 0 |
[PMID 9683594] Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
ClinVar | |
---|---|
Risk | rs61752095(G;G) |
Alt | rs61752095(G;G) |
Reference | Rs61752095(C;C) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 6B |
Variation | info |
Gene | PEX10 |
CLNDBN | Peroxisome biogenesis disorder 6B |
Reversed | 1 |
HGVS | NC_000001.10:g.2337965G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007173.3, |