rs398124278
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124278(-;ACTC) |
Make rs398124278(ACTC;ACTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 144399009 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs398124278 |
dbSNP (classic) | rs398124278 |
ClinGen | rs398124278 |
ebi | rs398124278 |
HLI | rs398124278 |
Exac | rs398124278 |
Gnomad | rs398124278 |
Varsome | rs398124278 |
LitVar | rs398124278 |
Map | rs398124278 |
PheGenI | rs398124278 |
Biobank | rs398124278 |
1000 genomes | rs398124278 |
hgdp | rs398124278 |
ensembl | rs398124278 |
geneview | rs398124278 |
scholar | rs398124278 |
rs398124278 | |
pharmgkb | rs398124278 |
gwascentral | rs398124278 |
openSNP | rs398124278 |
23andMe | rs398124278 |
SNPshot | rs398124278 |
SNPdbe | rs398124278 |
MSV3d | rs398124278 |
GWAS Ctlg | rs398124278 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124278(ACTC;ACTC) |
Alt | rs398124278(ACTC;ACTC) |
Reference | Rs398124278(-;-) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145156577_145156580dupGAGT |
CLNSRC | ClinVar |
CLNACC | RCV000081662.3, |