rs201179294
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201179294(C;T) |
Make rs201179294(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 143479155 |
Gene | PEX3 |
is a | snp |
is | mentioned by |
dbSNP | rs201179294 |
dbSNP (classic) | rs201179294 |
ClinGen | rs201179294 |
ebi | rs201179294 |
HLI | rs201179294 |
Exac | rs201179294 |
Gnomad | rs201179294 |
Varsome | rs201179294 |
LitVar | rs201179294 |
Map | rs201179294 |
PheGenI | rs201179294 |
Biobank | rs201179294 |
1000 genomes | rs201179294 |
hgdp | rs201179294 |
ensembl | rs201179294 |
geneview | rs201179294 |
scholar | rs201179294 |
rs201179294 | |
pharmgkb | rs201179294 |
gwascentral | rs201179294 |
openSNP | rs201179294 |
23andMe | rs201179294 |
SNPshot | rs201179294 |
SNPdbe | rs201179294 |
MSV3d | rs201179294 |
GWAS Ctlg | rs201179294 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201179294(T;T) |
Alt | rs201179294(T;T) |
Reference | Rs201179294(C;C) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 10b |
Variation | info |
Gene | PEX3 |
CLNDBN | Peroxisome biogenesis disorder 10b |
Reversed | 0 |
HGVS | NC_000006.11:g.143800292C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000444777.1, |