rs724159999
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs724159999(-;-) |
Make rs724159999(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 2408715 |
Gene | PEX10 |
is a | snp |
is | mentioned by |
dbSNP | rs724159999 |
dbSNP (classic) | rs724159999 |
ClinGen | rs724159999 |
ebi | rs724159999 |
HLI | rs724159999 |
Exac | rs724159999 |
Gnomad | rs724159999 |
Varsome | rs724159999 |
LitVar | rs724159999 |
Map | rs724159999 |
PheGenI | rs724159999 |
Biobank | rs724159999 |
1000 genomes | rs724159999 |
hgdp | rs724159999 |
ensembl | rs724159999 |
geneview | rs724159999 |
scholar | rs724159999 |
rs724159999 | |
pharmgkb | rs724159999 |
gwascentral | rs724159999 |
openSNP | rs724159999 |
23andMe | rs724159999 |
SNPshot | rs724159999 |
SNPdbe | rs724159999 |
MSV3d | rs724159999 |
GWAS Ctlg | rs724159999 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159999(-;-) |
Alt | rs724159999(-;-) |
Reference | Rs724159999(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.2340154delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149809.4, |