rs61752137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61752137(C;T) |
Make rs61752137(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 7208554 |
Gene | PEX5 |
is a | snp |
is | mentioned by |
dbSNP | rs61752137 |
dbSNP (classic) | rs61752137 |
ClinGen | rs61752137 |
ebi | rs61752137 |
HLI | rs61752137 |
Exac | rs61752137 |
Gnomad | rs61752137 |
Varsome | rs61752137 |
LitVar | rs61752137 |
Map | rs61752137 |
PheGenI | rs61752137 |
Biobank | rs61752137 |
1000 genomes | rs61752137 |
hgdp | rs61752137 |
ensembl | rs61752137 |
geneview | rs61752137 |
scholar | rs61752137 |
rs61752137 | |
pharmgkb | rs61752137 |
gwascentral | rs61752137 |
openSNP | rs61752137 |
23andMe | rs61752137 |
SNPshot | rs61752137 |
SNPdbe | rs61752137 |
MSV3d | rs61752137 |
GWAS Ctlg | rs61752137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752137(T;T) |
Alt | rs61752137(T;T) |
Reference | Rs61752137(C;C) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 2a (zellweger) not provided |
Variation | info |
Gene | PEX5 |
CLNDBN | Peroxisome biogenesis disorder 2a (zellweger) not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.7361150C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009715.4, RCV000483391.1, |