rs863223326
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGGT;TGGT) | 0 | common in clinvar |
Make rs863223326(-;-) |
Make rs863223326(-;TGGT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 225424041 |
Gene | LBR |
is a | snp |
is | mentioned by |
dbSNP | rs863223326 |
dbSNP (classic) | rs863223326 |
ClinGen | rs863223326 |
ebi | rs863223326 |
HLI | rs863223326 |
Exac | rs863223326 |
Gnomad | rs863223326 |
Varsome | rs863223326 |
LitVar | rs863223326 |
Map | rs863223326 |
PheGenI | rs863223326 |
Biobank | rs863223326 |
1000 genomes | rs863223326 |
hgdp | rs863223326 |
ensembl | rs863223326 |
geneview | rs863223326 |
scholar | rs863223326 |
rs863223326 | |
pharmgkb | rs863223326 |
gwascentral | rs863223326 |
openSNP | rs863223326 |
23andMe | rs863223326 |
SNPshot | rs863223326 |
SNPdbe | rs863223326 |
MSV3d | rs863223326 |
GWAS Ctlg | rs863223326 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223326(-;-) |
Alt | rs863223326(-;-) |
Reference | Rs863223326(TGGT;TGGT) |
Significance | Pathogenic |
Disease | Greenberg dysplasia Pelger-Huët anomaly |
Variation | info |
Gene | LBR |
CLNDBN | Greenberg dysplasia Pelger-Huët anomaly |
Reversed | 1 |
HGVS | NC_000001.10:g.225611743_225611746delACCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087265.6, RCV000087266.6, |