rs111724246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111724246(G;T) |
Make rs111724246(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144404063 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs111724246 |
dbSNP (classic) | rs111724246 |
ClinGen | rs111724246 |
ebi | rs111724246 |
HLI | rs111724246 |
Exac | rs111724246 |
Gnomad | rs111724246 |
Varsome | rs111724246 |
LitVar | rs111724246 |
Map | rs111724246 |
PheGenI | rs111724246 |
Biobank | rs111724246 |
1000 genomes | rs111724246 |
hgdp | rs111724246 |
ensembl | rs111724246 |
geneview | rs111724246 |
scholar | rs111724246 |
rs111724246 | |
pharmgkb | rs111724246 |
gwascentral | rs111724246 |
openSNP | rs111724246 |
23andMe | rs111724246 |
SNPshot | rs111724246 |
SNPdbe | rs111724246 |
MSV3d | rs111724246 |
GWAS Ctlg | rs111724246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111724246(C;C) rs111724246(T;T) |
Alt | rs111724246(C;C) rs111724246(T;T) |
Reference | Rs111724246(G;G) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.145161630G>C |
CLNSRC | |
CLNACC | RCV000169702.1, |