rs864321673
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864321673(C;G) |
Make rs864321673(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 151428149 |
Gene | POGZ |
is a | snp |
is | mentioned by |
dbSNP | rs864321673 |
dbSNP (classic) | rs864321673 |
ClinGen | rs864321673 |
ebi | rs864321673 |
HLI | rs864321673 |
Exac | rs864321673 |
Gnomad | rs864321673 |
Varsome | rs864321673 |
LitVar | rs864321673 |
Map | rs864321673 |
PheGenI | rs864321673 |
Biobank | rs864321673 |
1000 genomes | rs864321673 |
hgdp | rs864321673 |
ensembl | rs864321673 |
geneview | rs864321673 |
scholar | rs864321673 |
rs864321673 | |
pharmgkb | rs864321673 |
gwascentral | rs864321673 |
openSNP | rs864321673 |
23andMe | rs864321673 |
SNPshot | rs864321673 |
SNPdbe | rs864321673 |
MSV3d | rs864321673 |
GWAS Ctlg | rs864321673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321673(G;G) |
Alt | rs864321673(G;G) |
Reference | Rs864321673(C;C) |
Significance | Pathogenic |
Disease | White-sutton syndrome |
Variation | info |
Gene | POGZ |
CLNDBN | White-sutton syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.151400625G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203582.1, |