rs62641225
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62641225(G;T) |
Make rs62641225(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 2406561 |
Gene | PEX10 |
is a | snp |
is | mentioned by |
dbSNP | rs62641225 |
dbSNP (classic) | rs62641225 |
ClinGen | rs62641225 |
ebi | rs62641225 |
HLI | rs62641225 |
Exac | rs62641225 |
Gnomad | rs62641225 |
Varsome | rs62641225 |
LitVar | rs62641225 |
Map | rs62641225 |
PheGenI | rs62641225 |
Biobank | rs62641225 |
1000 genomes | rs62641225 |
hgdp | rs62641225 |
ensembl | rs62641225 |
geneview | rs62641225 |
scholar | rs62641225 |
rs62641225 | |
pharmgkb | rs62641225 |
gwascentral | rs62641225 |
openSNP | rs62641225 |
23andMe | rs62641225 |
SNPshot | rs62641225 |
SNPdbe | rs62641225 |
MSV3d | rs62641225 |
GWAS Ctlg | rs62641225 |
Max Magnitude | 0 |
[PMID 15542397] The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
ClinVar | |
---|---|
Risk | rs62641225(A;A) rs62641225(T;T) |
Alt | rs62641225(A;A) rs62641225(T;T) |
Reference | Rs62641225(G;G) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 6A |
Variation | info |
Gene | PEX10 |
CLNDBN | Peroxisome biogenesis disorder 6A |
Reversed | 1 |
HGVS | NC_000001.10:g.2338000C>A |
CLNSRC | |
CLNACC | RCV000289565.1, |