rs730881217
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730881217(-;-) |
Make rs730881217(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144390023 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881217 |
dbSNP (classic) | rs730881217 |
ClinGen | rs730881217 |
ebi | rs730881217 |
HLI | rs730881217 |
Exac | rs730881217 |
Gnomad | rs730881217 |
Varsome | rs730881217 |
LitVar | rs730881217 |
Map | rs730881217 |
PheGenI | rs730881217 |
Biobank | rs730881217 |
1000 genomes | rs730881217 |
hgdp | rs730881217 |
ensembl | rs730881217 |
geneview | rs730881217 |
scholar | rs730881217 |
rs730881217 | |
pharmgkb | rs730881217 |
gwascentral | rs730881217 |
openSNP | rs730881217 |
23andMe | rs730881217 |
SNPshot | rs730881217 |
SNPdbe | rs730881217 |
MSV3d | rs730881217 |
GWAS Ctlg | rs730881217 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881217(-;-) |
Alt | rs730881217(-;-) |
Reference | Rs730881217(A;A) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145147590delT |
CLNSRC | |
CLNACC | RCV000159502.1, |