rs398124275
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124275(-;C) |
Make rs398124275(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 144399645 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs398124275 |
dbSNP (classic) | rs398124275 |
ClinGen | rs398124275 |
ebi | rs398124275 |
HLI | rs398124275 |
Exac | rs398124275 |
Gnomad | rs398124275 |
Varsome | rs398124275 |
LitVar | rs398124275 |
Map | rs398124275 |
PheGenI | rs398124275 |
Biobank | rs398124275 |
1000 genomes | rs398124275 |
hgdp | rs398124275 |
ensembl | rs398124275 |
geneview | rs398124275 |
scholar | rs398124275 |
rs398124275 | |
pharmgkb | rs398124275 |
gwascentral | rs398124275 |
openSNP | rs398124275 |
23andMe | rs398124275 |
SNPshot | rs398124275 |
SNPdbe | rs398124275 |
MSV3d | rs398124275 |
GWAS Ctlg | rs398124275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124275(A;A) rs398124275(C;C) |
Alt | rs398124275(A;A) rs398124275(C;C) |
Reference | Rs398124275(-;-) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145157212_145157213insT; NC_000002.11:g.145157213dupG |
CLNSRC | ClinVar |
CLNACC | RCV000169704.1, RCV000081656.3, |