rs398124511
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124511(-;AGCCGCGGCCGCGGCCGCCGCGGC) |
Make rs398124511(AGCCGCGGCCGCGGCCGCCGCGGC;AGCCGCGGCCGCGGCCGCCGCGGC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 25013530 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs398124511 |
dbSNP (classic) | rs398124511 |
ClinGen | rs398124511 |
ebi | rs398124511 |
HLI | rs398124511 |
Exac | rs398124511 |
Gnomad | rs398124511 |
Varsome | rs398124511 |
LitVar | rs398124511 |
Map | rs398124511 |
PheGenI | rs398124511 |
Biobank | rs398124511 |
1000 genomes | rs398124511 |
hgdp | rs398124511 |
ensembl | rs398124511 |
geneview | rs398124511 |
scholar | rs398124511 |
rs398124511 | |
pharmgkb | rs398124511 |
gwascentral | rs398124511 |
openSNP | rs398124511 |
23andMe | rs398124511 |
SNPshot | rs398124511 |
SNPdbe | rs398124511 |
MSV3d | rs398124511 |
GWAS Ctlg | rs398124511 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124511(AGCCGCGGCCGCGGCCGCCGCGGC;AGCCGCGGCCGCGGCCGCCGCGGC) |
Alt | rs398124511(AGCCGCGGCCGCGGCCGCCGCGGC;AGCCGCGGCCGCGGCCGCCGCGGC) |
Reference | Rs398124511(-;-) |
Significance | Pathogenic |
Disease | not provided Lissencephaly 2 Mental retardation |
Variation | info |
Gene | ARX |
CLNDBN | not provided Lissencephaly 2, X-linked Mental retardation, with or without seizures, ARX-related, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.25031648_25031671dup24 |
CLNSRC | HGMD |
CLNACC | RCV000082605.4, RCV000192670.2, RCV000348945.1, |