rs786204818
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs786204818(-;-) |
Make rs786204818(-;AT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 144399220 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204818 |
dbSNP (classic) | rs786204818 |
ClinGen | rs786204818 |
ebi | rs786204818 |
HLI | rs786204818 |
Exac | rs786204818 |
Gnomad | rs786204818 |
Varsome | rs786204818 |
LitVar | rs786204818 |
Map | rs786204818 |
PheGenI | rs786204818 |
Biobank | rs786204818 |
1000 genomes | rs786204818 |
hgdp | rs786204818 |
ensembl | rs786204818 |
geneview | rs786204818 |
scholar | rs786204818 |
rs786204818 | |
pharmgkb | rs786204818 |
gwascentral | rs786204818 |
openSNP | rs786204818 |
23andMe | rs786204818 |
SNPshot | rs786204818 |
SNPdbe | rs786204818 |
MSV3d | rs786204818 |
GWAS Ctlg | rs786204818 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204818(-;-) |
Alt | rs786204818(-;-) |
Reference | Rs786204818(AT;AT) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145156787_145156788delAT |
CLNSRC | |
CLNACC | RCV000169719.1, |