rs730882205
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730882205(A;C) |
Make rs730882205(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 42224882 |
Gene | ZNF526 |
is a | snp |
is | mentioned by |
dbSNP | rs730882205 |
dbSNP (classic) | rs730882205 |
ClinGen | rs730882205 |
ebi | rs730882205 |
HLI | rs730882205 |
Exac | rs730882205 |
Gnomad | rs730882205 |
Varsome | rs730882205 |
LitVar | rs730882205 |
Map | rs730882205 |
PheGenI | rs730882205 |
Biobank | rs730882205 |
1000 genomes | rs730882205 |
hgdp | rs730882205 |
ensembl | rs730882205 |
geneview | rs730882205 |
scholar | rs730882205 |
rs730882205 | |
pharmgkb | rs730882205 |
gwascentral | rs730882205 |
openSNP | rs730882205 |
23andMe | rs730882205 |
SNPshot | rs730882205 |
SNPdbe | rs730882205 |
MSV3d | rs730882205 |
GWAS Ctlg | rs730882205 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882205(C;C) |
Alt | rs730882205(C;C) |
Reference | Rs730882205(A;A) |
Significance | Probable-Pathogenic |
Disease | Intellectual disability Noonan-like facies Pulmonic stenosis not provided |
Variation | info |
Gene | ZNF526 |
CLNDBN | Intellectual disability Noonan-like facies Pulmonic stenosis not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.42729034A>C |
CLNSRC | |
CLNACC | RCV000162109.1, RCV000171284.1, |