rs587776610
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTT;GTT) | 0 | common in clinvar |
Make rs587776610(-;-) |
Make rs587776610(-;GTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 144429800 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776610 |
dbSNP (classic) | rs587776610 |
ClinGen | rs587776610 |
ebi | rs587776610 |
HLI | rs587776610 |
Exac | rs587776610 |
Gnomad | rs587776610 |
Varsome | rs587776610 |
LitVar | rs587776610 |
Map | rs587776610 |
PheGenI | rs587776610 |
Biobank | rs587776610 |
1000 genomes | rs587776610 |
hgdp | rs587776610 |
ensembl | rs587776610 |
geneview | rs587776610 |
scholar | rs587776610 |
rs587776610 | |
pharmgkb | rs587776610 |
gwascentral | rs587776610 |
openSNP | rs587776610 |
23andMe | rs587776610 |
SNPshot | rs587776610 |
SNPdbe | rs587776610 |
MSV3d | rs587776610 |
GWAS Ctlg | rs587776610 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776610(-;-) |
Alt | rs587776610(-;-) |
Reference | Rs587776610(GTT;GTT) |
Significance | Pathogenic |
Disease | Hirschsprung disease-mental retardation syndrome Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Hirschsprung disease-mental retardation syndrome, late infantile Mowat-Wilson syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.145187367_145187369delGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005030.2, RCV000490485.1, |