rs796052719
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs796052719(-;-) |
Make rs796052719(-;TA) |
Make rs796052719(TA;TA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 148468833 |
Gene | MBD5 |
is a | snp |
is | mentioned by |
dbSNP | rs796052719 |
dbSNP (classic) | rs796052719 |
ClinGen | rs796052719 |
ebi | rs796052719 |
HLI | rs796052719 |
Exac | rs796052719 |
Gnomad | rs796052719 |
Varsome | rs796052719 |
LitVar | rs796052719 |
Map | rs796052719 |
PheGenI | rs796052719 |
Biobank | rs796052719 |
1000 genomes | rs796052719 |
hgdp | rs796052719 |
ensembl | rs796052719 |
geneview | rs796052719 |
scholar | rs796052719 |
rs796052719 | |
pharmgkb | rs796052719 |
gwascentral | rs796052719 |
openSNP | rs796052719 |
23andMe | rs796052719 |
SNPshot | rs796052719 |
SNPdbe | rs796052719 |
MSV3d | rs796052719 |
GWAS Ctlg | rs796052719 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052719(-;-) |
Alt | rs796052719(-;-) |
Reference | Rs796052719(AT;AT) |
Significance | Pathogenic |
Disease | not provided Mental retardation |
Variation | info |
Gene | MBD5 |
CLNDBN | not provided Mental retardation, autosomal dominant 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.149226402_149226403delTA |
CLNSRC | |
CLNACC | RCV000188124.1, RCV000258468.1, |