rs879255570
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879255570(-;T) |
Make rs879255570(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 67611207 |
Gene | CTCF |
is a | snp |
is | mentioned by |
dbSNP | rs879255570 |
dbSNP (classic) | rs879255570 |
ClinGen | rs879255570 |
ebi | rs879255570 |
HLI | rs879255570 |
Exac | rs879255570 |
Gnomad | rs879255570 |
Varsome | rs879255570 |
LitVar | rs879255570 |
Map | rs879255570 |
PheGenI | rs879255570 |
Biobank | rs879255570 |
1000 genomes | rs879255570 |
hgdp | rs879255570 |
ensembl | rs879255570 |
geneview | rs879255570 |
scholar | rs879255570 |
rs879255570 | |
pharmgkb | rs879255570 |
gwascentral | rs879255570 |
openSNP | rs879255570 |
23andMe | rs879255570 |
SNPshot | rs879255570 |
SNPdbe | rs879255570 |
MSV3d | rs879255570 |
GWAS Ctlg | rs879255570 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255570(T;T) |
Alt | rs879255570(T;T) |
Reference | Rs879255570(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | CTCF |
CLNDBN | Mental retardation, autosomal dominant 21 |
Reversed | 0 |
HGVS | NC_000016.9:g.67645110dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074333.3, |