rs122458139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs122458139(C;T) |
Make rs122458139(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 109674403 |
Gene | ACSL4 |
is a | snp |
is | mentioned by |
dbSNP | rs122458139 |
dbSNP (classic) | rs122458139 |
ClinGen | rs122458139 |
ebi | rs122458139 |
HLI | rs122458139 |
Exac | rs122458139 |
Gnomad | rs122458139 |
Varsome | rs122458139 |
LitVar | rs122458139 |
Map | rs122458139 |
PheGenI | rs122458139 |
Biobank | rs122458139 |
1000 genomes | rs122458139 |
hgdp | rs122458139 |
ensembl | rs122458139 |
geneview | rs122458139 |
scholar | rs122458139 |
rs122458139 | |
pharmgkb | rs122458139 |
gwascentral | rs122458139 |
openSNP | rs122458139 |
23andMe | rs122458139 |
SNPshot | rs122458139 |
SNPdbe | rs122458139 |
MSV3d | rs122458139 |
GWAS Ctlg | rs122458139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122458139(T;T) |
Alt | rs122458139(T;T) |
Reference | Rs122458139(C;C) |
Significance | Pathogenic |
Disease | Mental retardation 63 |
Variation | info |
Gene | ACSL4 |
CLNDBN | Mental retardation 63, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.108917632G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012322.22, |