rs118204090
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118204090(A;G) |
Make rs118204090(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 75953563 |
Gene | ACOX1 |
is a | snp |
is | mentioned by |
dbSNP | rs118204090 |
dbSNP (classic) | rs118204090 |
ClinGen | rs118204090 |
ebi | rs118204090 |
HLI | rs118204090 |
Exac | rs118204090 |
Gnomad | rs118204090 |
Varsome | rs118204090 |
LitVar | rs118204090 |
Map | rs118204090 |
PheGenI | rs118204090 |
Biobank | rs118204090 |
1000 genomes | rs118204090 |
hgdp | rs118204090 |
ensembl | rs118204090 |
geneview | rs118204090 |
scholar | rs118204090 |
rs118204090 | |
pharmgkb | rs118204090 |
gwascentral | rs118204090 |
openSNP | rs118204090 |
23andMe | rs118204090 |
SNPshot | rs118204090 |
SNPdbe | rs118204090 |
MSV3d | rs118204090 |
GWAS Ctlg | rs118204090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118204090(G;G) |
Alt | rs118204090(G;G) |
Reference | Rs118204090(A;A) |
Significance | Pathogenic |
Disease | Pseudoneonatal adrenoleukodystrophy |
Variation | info |
Gene | ACOX1 |
CLNDBN | Pseudoneonatal adrenoleukodystrophy |
Reversed | 1 |
HGVS | NC_000017.10:g.73949644T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001564.2, |