rs864321694
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs864321694(-;-) |
Make rs864321694(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 70762984 |
Gene | AUTS2 |
is a | snp |
is | mentioned by |
dbSNP | rs864321694 |
dbSNP (classic) | rs864321694 |
ClinGen | rs864321694 |
ebi | rs864321694 |
HLI | rs864321694 |
Exac | rs864321694 |
Gnomad | rs864321694 |
Varsome | rs864321694 |
LitVar | rs864321694 |
Map | rs864321694 |
PheGenI | rs864321694 |
Biobank | rs864321694 |
1000 genomes | rs864321694 |
hgdp | rs864321694 |
ensembl | rs864321694 |
geneview | rs864321694 |
scholar | rs864321694 |
rs864321694 | |
pharmgkb | rs864321694 |
gwascentral | rs864321694 |
openSNP | rs864321694 |
23andMe | rs864321694 |
SNPshot | rs864321694 |
SNPdbe | rs864321694 |
MSV3d | rs864321694 |
GWAS Ctlg | rs864321694 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321694(-;-) |
Alt | rs864321694(-;-) |
Reference | Rs864321694(AA;AA) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | AUTS2 |
CLNDBN | Mental retardation, autosomal dominant 26 |
Reversed | 0 |
HGVS | NC_000007.13:g.70227970_70227971delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203570.1, |