rs730881212
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730881212(-;-) |
Make rs730881212(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144396477 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881212 |
dbSNP (classic) | rs730881212 |
ClinGen | rs730881212 |
ebi | rs730881212 |
HLI | rs730881212 |
Exac | rs730881212 |
Gnomad | rs730881212 |
Varsome | rs730881212 |
LitVar | rs730881212 |
Map | rs730881212 |
PheGenI | rs730881212 |
Biobank | rs730881212 |
1000 genomes | rs730881212 |
hgdp | rs730881212 |
ensembl | rs730881212 |
geneview | rs730881212 |
scholar | rs730881212 |
rs730881212 | |
pharmgkb | rs730881212 |
gwascentral | rs730881212 |
openSNP | rs730881212 |
23andMe | rs730881212 |
SNPshot | rs730881212 |
SNPdbe | rs730881212 |
MSV3d | rs730881212 |
GWAS Ctlg | rs730881212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881212(-;-) |
Alt | rs730881212(-;-) |
Reference | Rs730881212(G;G) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145154044delC |
CLNSRC | |
CLNACC | RCV000159495.1, |