rs869320764
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs869320764(-;-) |
Make rs869320764(-;AG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 151405578 |
Gene | POGZ |
is a | snp |
is | mentioned by |
dbSNP | rs869320764 |
dbSNP (classic) | rs869320764 |
ClinGen | rs869320764 |
ebi | rs869320764 |
HLI | rs869320764 |
Exac | rs869320764 |
Gnomad | rs869320764 |
Varsome | rs869320764 |
LitVar | rs869320764 |
Map | rs869320764 |
PheGenI | rs869320764 |
Biobank | rs869320764 |
1000 genomes | rs869320764 |
hgdp | rs869320764 |
ensembl | rs869320764 |
geneview | rs869320764 |
scholar | rs869320764 |
rs869320764 | |
pharmgkb | rs869320764 |
gwascentral | rs869320764 |
openSNP | rs869320764 |
23andMe | rs869320764 |
SNPshot | rs869320764 |
SNPdbe | rs869320764 |
MSV3d | rs869320764 |
GWAS Ctlg | rs869320764 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320764(-;-) |
Alt | rs869320764(-;-) |
Reference | Rs869320764(AG;AG) |
Significance | Pathogenic |
Disease | White-sutton syndrome |
Variation | info |
Gene | POGZ |
CLNDBN | White-sutton syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.151378054_151378055delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210322.1, |