rs730881208
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730881208(-;-) |
Make rs730881208(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144400190 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881208 |
dbSNP (classic) | rs730881208 |
ClinGen | rs730881208 |
ebi | rs730881208 |
HLI | rs730881208 |
Exac | rs730881208 |
Gnomad | rs730881208 |
Varsome | rs730881208 |
LitVar | rs730881208 |
Map | rs730881208 |
PheGenI | rs730881208 |
Biobank | rs730881208 |
1000 genomes | rs730881208 |
hgdp | rs730881208 |
ensembl | rs730881208 |
geneview | rs730881208 |
scholar | rs730881208 |
rs730881208 | |
pharmgkb | rs730881208 |
gwascentral | rs730881208 |
openSNP | rs730881208 |
23andMe | rs730881208 |
SNPshot | rs730881208 |
SNPdbe | rs730881208 |
MSV3d | rs730881208 |
GWAS Ctlg | rs730881208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881208(-;-) |
Alt | rs730881208(-;-) |
Reference | Rs730881208(A;A) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145157757delT |
CLNSRC | |
CLNACC | RCV000159491.1, |