rs398124429
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124429(-;AAAACATGCAGAGCAG) |
Make rs398124429(AAAACATGCAGAGCAG;AAAACATGCAGAGCAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 70970772 |
Gene | FOXP1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124429 |
dbSNP (classic) | rs398124429 |
ClinGen | rs398124429 |
ebi | rs398124429 |
HLI | rs398124429 |
Exac | rs398124429 |
Gnomad | rs398124429 |
Varsome | rs398124429 |
LitVar | rs398124429 |
Map | rs398124429 |
PheGenI | rs398124429 |
Biobank | rs398124429 |
1000 genomes | rs398124429 |
hgdp | rs398124429 |
ensembl | rs398124429 |
geneview | rs398124429 |
scholar | rs398124429 |
rs398124429 | |
pharmgkb | rs398124429 |
gwascentral | rs398124429 |
openSNP | rs398124429 |
23andMe | rs398124429 |
SNPshot | rs398124429 |
SNPdbe | rs398124429 |
MSV3d | rs398124429 |
GWAS Ctlg | rs398124429 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124429(AAAACATGCAGAGCAG;AAAACATGCAGAGCAG) |
Alt | rs398124429(AAAACATGCAGAGCAG;AAAACATGCAGAGCAG) |
Reference | Rs398124429(-;-) |
Significance | Pathogenic |
Disease | not provided Mental retardation with language impairment and with or without autistic features |
Variation | info |
Gene | FOXP1 |
CLNDBN | not provided Mental retardation with language impairment and with or without autistic features |
Reversed | 1 |
HGVS | NC_000003.11:g.71019924_71019939dup16 |
CLNSRC | ClinVar |
CLNACC | RCV000082306.3, RCV000175485.1, |