rs786200948
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs786200948(-;-) |
Make rs786200948(-;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 70977908 |
Gene | FOXP1 |
is a | snp |
is | mentioned by |
dbSNP | rs786200948 |
dbSNP (classic) | rs786200948 |
ClinGen | rs786200948 |
ebi | rs786200948 |
HLI | rs786200948 |
Exac | rs786200948 |
Gnomad | rs786200948 |
Varsome | rs786200948 |
LitVar | rs786200948 |
Map | rs786200948 |
PheGenI | rs786200948 |
Biobank | rs786200948 |
1000 genomes | rs786200948 |
hgdp | rs786200948 |
ensembl | rs786200948 |
geneview | rs786200948 |
scholar | rs786200948 |
rs786200948 | |
pharmgkb | rs786200948 |
gwascentral | rs786200948 |
openSNP | rs786200948 |
23andMe | rs786200948 |
SNPshot | rs786200948 |
SNPdbe | rs786200948 |
MSV3d | rs786200948 |
GWAS Ctlg | rs786200948 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200948(-;-) |
Alt | rs786200948(-;-) |
Reference | Rs786200948(GT;GT) |
Significance | Probable-Pathogenic |
Disease | Mental retardation with language impairment and with or without autistic features |
Variation | info |
Gene | FOXP1 |
CLNDBN | Mental retardation with language impairment and with or without autistic features |
Reversed | 1 |
HGVS | NC_000003.11:g.71027059_71027060delAC |
CLNSRC | |
CLNACC | RCV000169648.1, |