rs398123108
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
(A;G) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 153743211 |
Gene | ABCD1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123108 |
dbSNP (classic) | rs398123108 |
ClinGen | rs398123108 |
ebi | rs398123108 |
HLI | rs398123108 |
Exac | rs398123108 |
Gnomad | rs398123108 |
Varsome | rs398123108 |
LitVar | rs398123108 |
Map | rs398123108 |
PheGenI | rs398123108 |
Biobank | rs398123108 |
1000 genomes | rs398123108 |
hgdp | rs398123108 |
ensembl | rs398123108 |
geneview | rs398123108 |
scholar | rs398123108 |
rs398123108 | |
pharmgkb | rs398123108 |
gwascentral | rs398123108 |
openSNP | rs398123108 |
23andMe | rs398123108 |
SNPshot | rs398123108 |
SNPdbe | rs398123108 |
MSV3d | rs398123108 |
GWAS Ctlg | rs398123108 |
Max Magnitude | 7.7 |
ClinVar | |
---|---|
Risk | Rs398123108(A;A) |
Alt | Rs398123108(A;A) |
Reference | Rs398123108(G;G) |
Significance | Pathogenic |
Disease | Adrenoleukodystrophy not provided |
Variation | info |
Gene | ABCD1 |
CLNDBN | Adrenoleukodystrophy not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.153008665G>A |
CLNSRC | HGMD |
CLNACC | RCV000077961.4, RCV000414732.1, |