rs201568579
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.p2 38.2/144 |
Chromosome | X |
Position | 153740600 |
Gene | ABCD1 |
is a | snp |
is | mentioned by |
dbSNP | rs201568579 |
dbSNP (classic) | rs201568579 |
ClinGen | rs201568579 |
ebi | rs201568579 |
HLI | rs201568579 |
Exac | rs201568579 |
Gnomad | rs201568579 |
Varsome | rs201568579 |
LitVar | rs201568579 |
Map | rs201568579 |
PheGenI | rs201568579 |
Biobank | rs201568579 |
1000 genomes | rs201568579 |
hgdp | rs201568579 |
ensembl | rs201568579 |
geneview | rs201568579 |
scholar | rs201568579 |
rs201568579 | |
pharmgkb | rs201568579 |
gwascentral | rs201568579 |
openSNP | rs201568579 |
23andMe | rs201568579 |
SNPshot | rs201568579 |
SNPdbe | rs201568579 |
MSV3d | rs201568579 |
GWAS Ctlg | rs201568579 |
Max Magnitude | 7.7 |
ClinVar | |
---|---|
Risk | Rs201568579(A;A) |
Alt | Rs201568579(A;A) |
Reference | Rs201568579(G;G) |
Significance | Pathogenic |
Disease | Adrenoleukodystrophy |
Variation | info |
Gene | ABCD1 |
CLNDBN | Adrenoleukodystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.153006054G>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000152720.3, |