rs483353067
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483353067(C;T) |
Make rs483353067(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 114350276 |
Gene | ZBTB20, ZBTB20-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs483353067 |
dbSNP (classic) | rs483353067 |
ClinGen | rs483353067 |
ebi | rs483353067 |
HLI | rs483353067 |
Exac | rs483353067 |
Gnomad | rs483353067 |
Varsome | rs483353067 |
LitVar | rs483353067 |
Map | rs483353067 |
PheGenI | rs483353067 |
Biobank | rs483353067 |
1000 genomes | rs483353067 |
hgdp | rs483353067 |
ensembl | rs483353067 |
geneview | rs483353067 |
scholar | rs483353067 |
rs483353067 | |
pharmgkb | rs483353067 |
gwascentral | rs483353067 |
openSNP | rs483353067 |
23andMe | rs483353067 |
SNPshot | rs483353067 |
SNPdbe | rs483353067 |
MSV3d | rs483353067 |
GWAS Ctlg | rs483353067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353067(A;A) rs483353067(T;T) |
Alt | rs483353067(A;A) rs483353067(T;T) |
Reference | Rs483353067(C;C) |
Significance | Pathogenic |
Disease | Primrose syndrome not provided |
Variation | info |
Gene | ZBTB20 ZBTB20-AS1 |
CLNDBN | Primrose syndrome not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.114069123G>A; NC_000003.11:g.114069123G>T |
CLNSRC | ClinVar |
CLNACC | RCV000149433.1, RCV000478089.1, |