rs797044625
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
(-;AC) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
(AC;AC) | 0 | common/normal |
(CA;CA) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 153743503 |
Gene | ABCD1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044625 |
dbSNP (classic) | rs797044625 |
ClinGen | rs797044625 |
ebi | rs797044625 |
HLI | rs797044625 |
Exac | rs797044625 |
Gnomad | rs797044625 |
Varsome | rs797044625 |
LitVar | rs797044625 |
Map | rs797044625 |
PheGenI | rs797044625 |
Biobank | rs797044625 |
1000 genomes | rs797044625 |
hgdp | rs797044625 |
ensembl | rs797044625 |
geneview | rs797044625 |
scholar | rs797044625 |
rs797044625 | |
pharmgkb | rs797044625 |
gwascentral | rs797044625 |
openSNP | rs797044625 |
23andMe | rs797044625 |
SNPshot | rs797044625 |
SNPdbe | rs797044625 |
MSV3d | rs797044625 |
GWAS Ctlg | rs797044625 |
Max Magnitude | 7.7 |
c.2006_2007delAC (p.His669Leufs)
Reported in ClinVar as likely to be pathogenic for adrenoleukodystrophy (ALD); note that mutation is not listed in the ALD Mutation Database
ClinVar | |
---|---|
Risk | Rs797044625(-;-) |
Alt | Rs797044625(-;-) |
Reference | Rs797044625(CA;CA) |
Significance | Pathogenic |
Disease | Adrenoleukodystrophy |
Variation | info |
Gene | ABCD1 |
CLNDBN | Adrenoleukodystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.153008957_153008958delAC |
CLNSRC | |
CLNACC | RCV000173620.1, |