rs797046119
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACTC;ACTC) | 0 | common in clinvar |
Make rs797046119(-;-) |
Make rs797046119(-;ACTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 144398780 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs797046119 |
dbSNP (classic) | rs797046119 |
ClinGen | rs797046119 |
ebi | rs797046119 |
HLI | rs797046119 |
Exac | rs797046119 |
Gnomad | rs797046119 |
Varsome | rs797046119 |
LitVar | rs797046119 |
Map | rs797046119 |
PheGenI | rs797046119 |
Biobank | rs797046119 |
1000 genomes | rs797046119 |
hgdp | rs797046119 |
ensembl | rs797046119 |
geneview | rs797046119 |
scholar | rs797046119 |
rs797046119 | |
pharmgkb | rs797046119 |
gwascentral | rs797046119 |
openSNP | rs797046119 |
23andMe | rs797046119 |
SNPshot | rs797046119 |
SNPdbe | rs797046119 |
MSV3d | rs797046119 |
GWAS Ctlg | rs797046119 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046119(-;-) |
Alt | rs797046119(-;-) |
Reference | Rs797046119(ACTC;ACTC) |
Significance | Pathogenic |
Disease | Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145156347_145156350delGAGT |
CLNSRC | |
CLNACC | RCV000192418.1, |