rs61750435
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common in clinvar |
Make rs61750435(-;A) |
Make rs61750435(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 2406791 |
Gene | PEX10 |
is a | snp |
is | mentioned by |
dbSNP | rs61750435 |
dbSNP (classic) | rs61750435 |
ClinGen | rs61750435 |
ebi | rs61750435 |
HLI | rs61750435 |
Exac | rs61750435 |
Gnomad | rs61750435 |
Varsome | rs61750435 |
LitVar | rs61750435 |
Map | rs61750435 |
PheGenI | rs61750435 |
Biobank | rs61750435 |
1000 genomes | rs61750435 |
hgdp | rs61750435 |
ensembl | rs61750435 |
geneview | rs61750435 |
scholar | rs61750435 |
rs61750435 | |
pharmgkb | rs61750435 |
gwascentral | rs61750435 |
openSNP | rs61750435 |
23andMe | rs61750435 |
SNPshot | rs61750435 |
SNPdbe | rs61750435 |
MSV3d | rs61750435 |
GWAS Ctlg | rs61750435 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750435(A;A) |
Alt | rs61750435(A;A) |
Reference | Rs61750435(-;-) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6B not provided |
Variation | info |
Gene | PEX10 |
CLNDBN | Peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6B not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.2338231dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007176.5, RCV000149808.5, RCV000324305.1, |
[PMID 10862081] Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.