rs863224943
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224943(-;-) |
Make rs863224943(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 144399007 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224943 |
dbSNP (classic) | rs863224943 |
ClinGen | rs863224943 |
ebi | rs863224943 |
HLI | rs863224943 |
Exac | rs863224943 |
Gnomad | rs863224943 |
Varsome | rs863224943 |
LitVar | rs863224943 |
Map | rs863224943 |
PheGenI | rs863224943 |
Biobank | rs863224943 |
1000 genomes | rs863224943 |
hgdp | rs863224943 |
ensembl | rs863224943 |
geneview | rs863224943 |
scholar | rs863224943 |
rs863224943 | |
pharmgkb | rs863224943 |
gwascentral | rs863224943 |
openSNP | rs863224943 |
23andMe | rs863224943 |
SNPshot | rs863224943 |
SNPdbe | rs863224943 |
MSV3d | rs863224943 |
GWAS Ctlg | rs863224943 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224943(-;-) |
Alt | rs863224943(-;-) |
Reference | Rs863224943(T;T) |
Significance | Probable-Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145156574delA |
CLNSRC | |
CLNACC | RCV000200598.1, |