rs869312689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869312689(C;C) |
Make rs869312689(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 244053934 |
Gene | ZBTB18 |
is a | snp |
is | mentioned by |
dbSNP | rs869312689 |
dbSNP (classic) | rs869312689 |
ClinGen | rs869312689 |
ebi | rs869312689 |
HLI | rs869312689 |
Exac | rs869312689 |
Gnomad | rs869312689 |
Varsome | rs869312689 |
LitVar | rs869312689 |
Map | rs869312689 |
PheGenI | rs869312689 |
Biobank | rs869312689 |
1000 genomes | rs869312689 |
hgdp | rs869312689 |
ensembl | rs869312689 |
geneview | rs869312689 |
scholar | rs869312689 |
rs869312689 | |
pharmgkb | rs869312689 |
gwascentral | rs869312689 |
openSNP | rs869312689 |
23andMe | rs869312689 |
SNPshot | rs869312689 |
SNPdbe | rs869312689 |
MSV3d | rs869312689 |
GWAS Ctlg | rs869312689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312689(C;C) |
Alt | rs869312689(C;C) |
Reference | Rs869312689(T;T) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ZBTB18 |
CLNDBN | Mental retardation, autosomal dominant 22 |
Reversed | 0 |
HGVS | NC_000001.10:g.244217236T>C |
CLNSRC | |
CLNACC | RCV000209846.1, |