rs483353070
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483353070(C;T) |
Make rs483353070(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 114339370 |
Gene | ZBTB20 |
is a | snp |
is | mentioned by |
dbSNP | rs483353070 |
dbSNP (classic) | rs483353070 |
ClinGen | rs483353070 |
ebi | rs483353070 |
HLI | rs483353070 |
Exac | rs483353070 |
Gnomad | rs483353070 |
Varsome | rs483353070 |
LitVar | rs483353070 |
Map | rs483353070 |
PheGenI | rs483353070 |
Biobank | rs483353070 |
1000 genomes | rs483353070 |
hgdp | rs483353070 |
ensembl | rs483353070 |
geneview | rs483353070 |
scholar | rs483353070 |
rs483353070 | |
pharmgkb | rs483353070 |
gwascentral | rs483353070 |
openSNP | rs483353070 |
23andMe | rs483353070 |
SNPshot | rs483353070 |
SNPdbe | rs483353070 |
MSV3d | rs483353070 |
GWAS Ctlg | rs483353070 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353070(T;T) |
Alt | rs483353070(T;T) |
Reference | Rs483353070(C;C) |
Significance | Pathogenic |
Disease | Primrose syndrome |
Variation | info |
Gene | ZBTB20 |
CLNDBN | Primrose syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.114058217G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000133613.4, |