rs727503784
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727503784(-;-) |
Make rs727503784(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144429811 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs727503784 |
dbSNP (classic) | rs727503784 |
ClinGen | rs727503784 |
ebi | rs727503784 |
HLI | rs727503784 |
Exac | rs727503784 |
Gnomad | rs727503784 |
Varsome | rs727503784 |
LitVar | rs727503784 |
Map | rs727503784 |
PheGenI | rs727503784 |
Biobank | rs727503784 |
1000 genomes | rs727503784 |
hgdp | rs727503784 |
ensembl | rs727503784 |
geneview | rs727503784 |
scholar | rs727503784 |
rs727503784 | |
pharmgkb | rs727503784 |
gwascentral | rs727503784 |
openSNP | rs727503784 |
23andMe | rs727503784 |
SNPshot | rs727503784 |
SNPdbe | rs727503784 |
MSV3d | rs727503784 |
GWAS Ctlg | rs727503784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503784(-;-) |
Alt | rs727503784(-;-) |
Reference | Rs727503784(T;T) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145187378delA |
CLNSRC | |
CLNACC | RCV000157060.3, |