rs724160002
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs724160002(C;C) |
Make rs724160002(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 2412501 |
Gene | PLCH2, PEX10 |
is a | snp |
is | mentioned by |
dbSNP | rs724160002 |
dbSNP (classic) | rs724160002 |
ClinGen | rs724160002 |
ebi | rs724160002 |
HLI | rs724160002 |
Exac | rs724160002 |
Gnomad | rs724160002 |
Varsome | rs724160002 |
LitVar | rs724160002 |
Map | rs724160002 |
PheGenI | rs724160002 |
Biobank | rs724160002 |
1000 genomes | rs724160002 |
hgdp | rs724160002 |
ensembl | rs724160002 |
geneview | rs724160002 |
scholar | rs724160002 |
rs724160002 | |
pharmgkb | rs724160002 |
gwascentral | rs724160002 |
openSNP | rs724160002 |
23andMe | rs724160002 |
SNPshot | rs724160002 |
SNPdbe | rs724160002 |
MSV3d | rs724160002 |
GWAS Ctlg | rs724160002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724160002(C;C) |
Alt | rs724160002(C;C) |
Reference | Rs724160002(T;T) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 6B |
Variation | info |
Gene | PEX10 |
CLNDBN | Peroxisome biogenesis disorder 6B |
Reversed | 1 |
HGVS | NC_000001.10:g.2343940A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149812.5, |