rs878853163
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs878853163(A;T) |
Make rs878853163(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 199323850 |
Gene | SATB2 |
is a | snp |
is | mentioned by |
dbSNP | rs878853163 |
dbSNP (classic) | rs878853163 |
ClinGen | rs878853163 |
ebi | rs878853163 |
HLI | rs878853163 |
Exac | rs878853163 |
Gnomad | rs878853163 |
Varsome | rs878853163 |
LitVar | rs878853163 |
Map | rs878853163 |
PheGenI | rs878853163 |
Biobank | rs878853163 |
1000 genomes | rs878853163 |
hgdp | rs878853163 |
ensembl | rs878853163 |
geneview | rs878853163 |
scholar | rs878853163 |
rs878853163 | |
pharmgkb | rs878853163 |
gwascentral | rs878853163 |
openSNP | rs878853163 |
23andMe | rs878853163 |
SNPshot | rs878853163 |
SNPdbe | rs878853163 |
MSV3d | rs878853163 |
GWAS Ctlg | rs878853163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853163(T;T) |
Alt | rs878853163(T;T) |
Reference | Rs878853163(A;A) |
Significance | Pathogenic |
Disease | Chromosome 2q32-q33 deletion syndrome |
Variation | info |
Gene | SATB2 |
CLNDBN | Chromosome 2q32-q33 deletion syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.200188573T>A |
CLNSRC | |
CLNACC | RCV000224980.1, |