rs730881215
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACGAGTCCAGCTA;ACGAGTCCAGCTA) | 0 | common in clinvar |
Make rs730881215(ACGAGTCCAGCTA;GTT) |
Make rs730881215(GTT;GTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144429910 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881215 |
dbSNP (classic) | rs730881215 |
ClinGen | rs730881215 |
ebi | rs730881215 |
HLI | rs730881215 |
Exac | rs730881215 |
Gnomad | rs730881215 |
Varsome | rs730881215 |
LitVar | rs730881215 |
Map | rs730881215 |
PheGenI | rs730881215 |
Biobank | rs730881215 |
1000 genomes | rs730881215 |
hgdp | rs730881215 |
ensembl | rs730881215 |
geneview | rs730881215 |
scholar | rs730881215 |
rs730881215 | |
pharmgkb | rs730881215 |
gwascentral | rs730881215 |
openSNP | rs730881215 |
23andMe | rs730881215 |
SNPshot | rs730881215 |
SNPdbe | rs730881215 |
MSV3d | rs730881215 |
GWAS Ctlg | rs730881215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881215(GTT;GTT) |
Alt | rs730881215(GTT;GTT) |
Reference | Rs730881215(ACGAGTCCAGCTA;ACGAGTCCAGCTA) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145187477_145187489delTAGCTGGACTCGTinsAAC |
CLNSRC | |
CLNACC | RCV000159498.1, |