rs483353069
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs483353069(A;C) |
Make rs483353069(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 114339420 |
Gene | ZBTB20 |
is a | snp |
is | mentioned by |
dbSNP | rs483353069 |
dbSNP (classic) | rs483353069 |
ClinGen | rs483353069 |
ebi | rs483353069 |
HLI | rs483353069 |
Exac | rs483353069 |
Gnomad | rs483353069 |
Varsome | rs483353069 |
LitVar | rs483353069 |
Map | rs483353069 |
PheGenI | rs483353069 |
Biobank | rs483353069 |
1000 genomes | rs483353069 |
hgdp | rs483353069 |
ensembl | rs483353069 |
geneview | rs483353069 |
scholar | rs483353069 |
rs483353069 | |
pharmgkb | rs483353069 |
gwascentral | rs483353069 |
openSNP | rs483353069 |
23andMe | rs483353069 |
SNPshot | rs483353069 |
SNPdbe | rs483353069 |
MSV3d | rs483353069 |
GWAS Ctlg | rs483353069 |
Merged from | Rs786205434 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353069(C;C) |
Alt | rs483353069(C;C) |
Reference | Rs483353069(A;A) |
Significance | Pathogenic |
Disease | Primrose syndrome Inborn genetic diseases |
Variation | info |
Gene | ZBTB20 |
CLNDBN | Primrose syndrome Inborn genetic diseases |
Reversed | 1 |
HGVS | NC_000003.11:g.114058267T>G |
CLNSRC | |
CLNACC | RCV000149434.1, RCV000190703.1, |