rs112795301
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs112795301(A;A) |
Make rs112795301(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 70972634 |
Gene | FOXP1 |
is a | snp |
is | mentioned by |
dbSNP | rs112795301 |
dbSNP (classic) | rs112795301 |
ClinGen | rs112795301 |
ebi | rs112795301 |
HLI | rs112795301 |
Exac | rs112795301 |
Gnomad | rs112795301 |
Varsome | rs112795301 |
LitVar | rs112795301 |
Map | rs112795301 |
PheGenI | rs112795301 |
Biobank | rs112795301 |
1000 genomes | rs112795301 |
hgdp | rs112795301 |
ensembl | rs112795301 |
geneview | rs112795301 |
scholar | rs112795301 |
rs112795301 | |
pharmgkb | rs112795301 |
gwascentral | rs112795301 |
openSNP | rs112795301 |
23andMe | rs112795301 |
SNPshot | rs112795301 |
SNPdbe | rs112795301 |
MSV3d | rs112795301 |
GWAS Ctlg | rs112795301 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112795301(A;A) |
Alt | rs112795301(A;A) |
Reference | Rs112795301(G;G) |
Significance | 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 | 0 |
HGVS | NC_000003.11:g.71021785G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005214.3, |