rs727504228
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504228(G;T) |
Make rs727504228(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 144429820 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504228 |
dbSNP (classic) | rs727504228 |
ClinGen | rs727504228 |
ebi | rs727504228 |
HLI | rs727504228 |
Exac | rs727504228 |
Gnomad | rs727504228 |
Varsome | rs727504228 |
LitVar | rs727504228 |
Map | rs727504228 |
PheGenI | rs727504228 |
Biobank | rs727504228 |
1000 genomes | rs727504228 |
hgdp | rs727504228 |
ensembl | rs727504228 |
geneview | rs727504228 |
scholar | rs727504228 |
rs727504228 | |
pharmgkb | rs727504228 |
gwascentral | rs727504228 |
openSNP | rs727504228 |
23andMe | rs727504228 |
SNPshot | rs727504228 |
SNPdbe | rs727504228 |
MSV3d | rs727504228 |
GWAS Ctlg | rs727504228 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504228(T;T) |
Alt | rs727504228(T;T) |
Reference | Rs727504228(G;G) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145187387C>A |
CLNSRC | |
CLNACC | RCV000154160.3, |