rs797045282
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797045282(C;T) |
Make rs797045282(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 157206545 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs797045282 |
dbSNP (classic) | rs797045282 |
ClinGen | rs797045282 |
ebi | rs797045282 |
HLI | rs797045282 |
Exac | rs797045282 |
Gnomad | rs797045282 |
Varsome | rs797045282 |
LitVar | rs797045282 |
Map | rs797045282 |
PheGenI | rs797045282 |
Biobank | rs797045282 |
1000 genomes | rs797045282 |
hgdp | rs797045282 |
ensembl | rs797045282 |
geneview | rs797045282 |
scholar | rs797045282 |
rs797045282 | |
pharmgkb | rs797045282 |
gwascentral | rs797045282 |
openSNP | rs797045282 |
23andMe | rs797045282 |
SNPshot | rs797045282 |
SNPdbe | rs797045282 |
MSV3d | rs797045282 |
GWAS Ctlg | rs797045282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045282(T;T) |
Alt | rs797045282(T;T) |
Reference | Rs797045282(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ARID1B |
CLNDBN | Mental retardation, autosomal dominant 12 |
Reversed | 0 |
HGVS | NC_000006.11:g.157527679C>T |
CLNSRC | |
CLNACC | RCV000193164.1, |