rs797044611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
(C;T) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 153726152 |
Gene | ABCD1, BCAP31 |
is a | snp |
is | mentioned by |
dbSNP | rs797044611 |
dbSNP (classic) | rs797044611 |
ClinGen | rs797044611 |
ebi | rs797044611 |
HLI | rs797044611 |
Exac | rs797044611 |
Gnomad | rs797044611 |
Varsome | rs797044611 |
LitVar | rs797044611 |
Map | rs797044611 |
PheGenI | rs797044611 |
Biobank | rs797044611 |
1000 genomes | rs797044611 |
hgdp | rs797044611 |
ensembl | rs797044611 |
geneview | rs797044611 |
scholar | rs797044611 |
rs797044611 | |
pharmgkb | rs797044611 |
gwascentral | rs797044611 |
openSNP | rs797044611 |
23andMe | rs797044611 |
SNPshot | rs797044611 |
SNPdbe | rs797044611 |
MSV3d | rs797044611 |
GWAS Ctlg | rs797044611 |
Max Magnitude | 7.7 |
aka c.886T>C (p.Tyr296His)
ClinVar | |
---|---|
Risk | Rs797044611(C;C) |
Alt | Rs797044611(C;C) |
Reference | Rs797044611(T;T) |
Significance | Probable-Pathogenic |
Disease | Adrenoleukodystrophy |
Variation | info |
Gene | BCAP31 ABCD1 |
CLNDBN | Adrenoleukodystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.152991607T>C |
CLNSRC | |
CLNACC | RCV000173053.1, |