rs1064793877
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
(T;T) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
Chromosome | X |
Position | 153743250 |
Gene | ABCD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1064793877 |
dbSNP (classic) | rs1064793877 |
ClinGen | rs1064793877 |
ebi | rs1064793877 |
HLI | rs1064793877 |
Exac | rs1064793877 |
Gnomad | rs1064793877 |
Varsome | rs1064793877 |
LitVar | rs1064793877 |
Map | rs1064793877 |
PheGenI | rs1064793877 |
Biobank | rs1064793877 |
1000 genomes | rs1064793877 |
hgdp | rs1064793877 |
ensembl | rs1064793877 |
geneview | rs1064793877 |
scholar | rs1064793877 |
rs1064793877 | |
pharmgkb | rs1064793877 |
gwascentral | rs1064793877 |
openSNP | rs1064793877 |
23andMe | rs1064793877 |
SNPshot | rs1064793877 |
SNPdbe | rs1064793877 |
MSV3d | rs1064793877 |
GWAS Ctlg | rs1064793877 |
Max Magnitude | 7.7 |
aka c.1895C>T (p.Thr632Ile)
ClinVar | |
---|---|
Risk | Rs1064793877(T;T) |
Alt | Rs1064793877(T;T) |
Reference | Rs1064793877(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ABCD1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.153008704C>T |
CLNSRC | |
CLNACC | RCV000480881.1, |