rs879255516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255516(C;T) |
Make rs879255516(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 67628550 |
Gene | CTCF |
is a | snp |
is | mentioned by |
dbSNP | rs879255516 |
dbSNP (classic) | rs879255516 |
ClinGen | rs879255516 |
ebi | rs879255516 |
HLI | rs879255516 |
Exac | rs879255516 |
Gnomad | rs879255516 |
Varsome | rs879255516 |
LitVar | rs879255516 |
Map | rs879255516 |
PheGenI | rs879255516 |
Biobank | rs879255516 |
1000 genomes | rs879255516 |
hgdp | rs879255516 |
ensembl | rs879255516 |
geneview | rs879255516 |
scholar | rs879255516 |
rs879255516 | |
pharmgkb | rs879255516 |
gwascentral | rs879255516 |
openSNP | rs879255516 |
23andMe | rs879255516 |
SNPshot | rs879255516 |
SNPdbe | rs879255516 |
MSV3d | rs879255516 |
GWAS Ctlg | rs879255516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255516(T;T) |
Alt | rs879255516(T;T) |
Reference | Rs879255516(C;C) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | CTCF |
CLNDBN | Mental retardation, autosomal dominant 21 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.67662453C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074335.3, RCV000413282.1, |