rs34961586
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs34961586(C;C) |
Make rs34961586(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 144403925 |
Gene | ZEB2 |
is a | snp |
is | mentioned by |
dbSNP | rs34961586 |
dbSNP (classic) | rs34961586 |
ClinGen | rs34961586 |
ebi | rs34961586 |
HLI | rs34961586 |
Exac | rs34961586 |
Gnomad | rs34961586 |
Varsome | rs34961586 |
LitVar | rs34961586 |
Map | rs34961586 |
PheGenI | rs34961586 |
Biobank | rs34961586 |
1000 genomes | rs34961586 |
hgdp | rs34961586 |
ensembl | rs34961586 |
geneview | rs34961586 |
scholar | rs34961586 |
rs34961586 | |
pharmgkb | rs34961586 |
gwascentral | rs34961586 |
openSNP | rs34961586 |
23andMe | rs34961586 |
SNPshot | rs34961586 |
SNPdbe | rs34961586 |
MSV3d | rs34961586 |
GWAS Ctlg | rs34961586 |
Max Magnitude | 0 |
[PMID 24576558] The single nucleotide polymorphisms in Smad-interacting protein 1 gene contribute to its ectopic expression and susceptibility in Hirschsprung's disease
ClinVar | |
---|---|
Risk | rs34961586(A;A) rs34961586(C;C) |
Alt | rs34961586(A;A) rs34961586(C;C) |
Reference | Rs34961586(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Mowat-Wilson syndrome |
Variation | info |
Gene | ZEB2 |
CLNDBN | not specified Mowat-Wilson syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.145161492C>G; NC_000002.11:g.145161492C>T |
CLNSRC | ClinVar GeneDx University of Chicago |
CLNACC | RCV000148005.3, RCV000266678.1, RCV000425221.1, |