rs61752138
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61752138(G;G) |
Make rs61752138(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 7209700 |
Gene | PEX5 |
is a | snp |
is | mentioned by |
dbSNP | rs61752138 |
dbSNP (classic) | rs61752138 |
ClinGen | rs61752138 |
ebi | rs61752138 |
HLI | rs61752138 |
Exac | rs61752138 |
Gnomad | rs61752138 |
Varsome | rs61752138 |
LitVar | rs61752138 |
Map | rs61752138 |
PheGenI | rs61752138 |
Biobank | rs61752138 |
1000 genomes | rs61752138 |
hgdp | rs61752138 |
ensembl | rs61752138 |
geneview | rs61752138 |
scholar | rs61752138 |
rs61752138 | |
pharmgkb | rs61752138 |
gwascentral | rs61752138 |
openSNP | rs61752138 |
23andMe | rs61752138 |
SNPshot | rs61752138 |
SNPdbe | rs61752138 |
MSV3d | rs61752138 |
GWAS Ctlg | rs61752138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752138(G;G) |
Alt | rs61752138(G;G) |
Reference | Rs61752138(T;T) |
Significance | Pathogenic |
Disease | Neonatal adrenoleucodystrophy not provided |
Variation | info |
Gene | PEX5 |
CLNDBN | Neonatal adrenoleucodystrophy not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.7362296T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009714.2, RCV000427819.1, |