rs587776603
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AACA;AACA) | 0 | common in clinvar |
(AACAG;AACAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGTT;TGTT) | 0 | common in clinvar |
Make rs587776603(-;-) |
Make rs587776603(-;TGTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 144400011 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776603 |
dbSNP (classic) | rs587776603 |
ClinGen | rs587776603 |
ebi | rs587776603 |
HLI | rs587776603 |
Exac | rs587776603 |
Gnomad | rs587776603 |
Varsome | rs587776603 |
LitVar | rs587776603 |
Map | rs587776603 |
PheGenI | rs587776603 |
Biobank | rs587776603 |
1000 genomes | rs587776603 |
hgdp | rs587776603 |
ensembl | rs587776603 |
geneview | rs587776603 |
scholar | rs587776603 |
rs587776603 | |
pharmgkb | rs587776603 |
gwascentral | rs587776603 |
openSNP | rs587776603 |
23andMe | rs587776603 |
SNPshot | rs587776603 |
SNPdbe | rs587776603 |
MSV3d | rs587776603 |
GWAS Ctlg | rs587776603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776603(TGTT;TGTT) rs587776603(-;-) |
Alt | Rs587776603(TGTT;TGTT) rs587776603(-;-) |
Reference | Rs587776603(AACA;AACA) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145157578_145157581delTGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005022.2, |