rs140630794
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs140630794(A;C) |
Make rs140630794(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 36397429 |
Gene | CHAF1B |
is a | snp |
is | mentioned by |
dbSNP | rs140630794 |
dbSNP (classic) | rs140630794 |
ClinGen | rs140630794 |
ebi | rs140630794 |
HLI | rs140630794 |
Exac | rs140630794 |
Gnomad | rs140630794 |
Varsome | rs140630794 |
LitVar | rs140630794 |
Map | rs140630794 |
PheGenI | rs140630794 |
Biobank | rs140630794 |
1000 genomes | rs140630794 |
hgdp | rs140630794 |
ensembl | rs140630794 |
geneview | rs140630794 |
scholar | rs140630794 |
rs140630794 | |
pharmgkb | rs140630794 |
gwascentral | rs140630794 |
openSNP | rs140630794 |
23andMe | rs140630794 |
SNPshot | rs140630794 |
SNPdbe | rs140630794 |
MSV3d | rs140630794 |
GWAS Ctlg | rs140630794 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140630794(C;C) rs140630794(G;G) |
Alt | rs140630794(C;C) rs140630794(G;G) |
Reference | Rs140630794(A;A) |
Significance | Probable-Pathogenic |
Disease | Attention deficit hyperactivity disorder Global developmental delay Intellectual disability |
Variation | info |
Gene | CHAF1B |
CLNDBN | Attention deficit hyperactivity disorder Global developmental delay Intellectual disability |
Reversed | 0 |
HGVS | NC_000021.8:g.37769727A>G |
CLNSRC | |
CLNACC | RCV000162182.1, |