rs863224942
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224942(G;T) |
Make rs863224942(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 144396547 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224942 |
dbSNP (classic) | rs863224942 |
ClinGen | rs863224942 |
ebi | rs863224942 |
HLI | rs863224942 |
Exac | rs863224942 |
Gnomad | rs863224942 |
Varsome | rs863224942 |
LitVar | rs863224942 |
Map | rs863224942 |
PheGenI | rs863224942 |
Biobank | rs863224942 |
1000 genomes | rs863224942 |
hgdp | rs863224942 |
ensembl | rs863224942 |
geneview | rs863224942 |
scholar | rs863224942 |
rs863224942 | |
pharmgkb | rs863224942 |
gwascentral | rs863224942 |
openSNP | rs863224942 |
23andMe | rs863224942 |
SNPshot | rs863224942 |
SNPdbe | rs863224942 |
MSV3d | rs863224942 |
GWAS Ctlg | rs863224942 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224942(T;T) |
Alt | rs863224942(T;T) |
Reference | Rs863224942(G;G) |
Significance | Probable-Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145154114C>A |
CLNSRC | |
CLNACC | RCV000198384.1, |