rs753933273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs753933273(A;A) |
Make rs753933273(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 157084773 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs753933273 |
dbSNP (classic) | rs753933273 |
ClinGen | rs753933273 |
ebi | rs753933273 |
HLI | rs753933273 |
Exac | rs753933273 |
Gnomad | rs753933273 |
Varsome | rs753933273 |
LitVar | rs753933273 |
Map | rs753933273 |
PheGenI | rs753933273 |
Biobank | rs753933273 |
1000 genomes | rs753933273 |
hgdp | rs753933273 |
ensembl | rs753933273 |
geneview | rs753933273 |
scholar | rs753933273 |
rs753933273 | |
pharmgkb | rs753933273 |
gwascentral | rs753933273 |
openSNP | rs753933273 |
23andMe | rs753933273 |
SNPshot | rs753933273 |
SNPdbe | rs753933273 |
MSV3d | rs753933273 |
GWAS Ctlg | rs753933273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753933273(A;A) rs753933273(T;T) |
Alt | rs753933273(A;A) rs753933273(T;T) |
Reference | Rs753933273(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ARID1B |
CLNDBN | Mental retardation, autosomal dominant 12 |
Reversed | 0 |
HGVS | NC_000006.11:g.157405907C>T |
CLNSRC | |
CLNACC | RCV000195185.1, |