rs886044777
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 |
Chromosome | X |
Position | 153736196 |
Gene | ABCD1 |
is a | snp |
is | mentioned by |
dbSNP | rs886044777 |
dbSNP (classic) | rs886044777 |
ClinGen | rs886044777 |
ebi | rs886044777 |
HLI | rs886044777 |
Exac | rs886044777 |
Gnomad | rs886044777 |
Varsome | rs886044777 |
LitVar | rs886044777 |
Map | rs886044777 |
PheGenI | rs886044777 |
Biobank | rs886044777 |
1000 genomes | rs886044777 |
hgdp | rs886044777 |
ensembl | rs886044777 |
geneview | rs886044777 |
scholar | rs886044777 |
rs886044777 | |
pharmgkb | rs886044777 |
gwascentral | rs886044777 |
openSNP | rs886044777 |
23andMe | rs886044777 |
SNPshot | rs886044777 |
SNPdbe | rs886044777 |
MSV3d | rs886044777 |
GWAS Ctlg | rs886044777 |
Max Magnitude | 7.7 |
ClinVar | |
---|---|
Risk | Rs886044777(A;A) |
Alt | Rs886044777(A;A) |
Reference | Rs886044777(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ABCD1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.153001650G>A |
CLNSRC | |
CLNACC | RCV000268436.1, |