rs864309680
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAGA;GAGA) | 0 | common in clinvar |
Make rs864309680(-;-) |
Make rs864309680(-;GAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 40062174 |
Gene | BCOR |
is a | snp |
is | mentioned by |
dbSNP | rs864309680 |
dbSNP (classic) | rs864309680 |
ClinGen | rs864309680 |
ebi | rs864309680 |
HLI | rs864309680 |
Exac | rs864309680 |
Gnomad | rs864309680 |
Varsome | rs864309680 |
LitVar | rs864309680 |
Map | rs864309680 |
PheGenI | rs864309680 |
Biobank | rs864309680 |
1000 genomes | rs864309680 |
hgdp | rs864309680 |
ensembl | rs864309680 |
geneview | rs864309680 |
scholar | rs864309680 |
rs864309680 | |
pharmgkb | rs864309680 |
gwascentral | rs864309680 |
openSNP | rs864309680 |
23andMe | rs864309680 |
SNPshot | rs864309680 |
SNPdbe | rs864309680 |
MSV3d | rs864309680 |
GWAS Ctlg | rs864309680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309680(-;-) |
Alt | rs864309680(-;-) |
Reference | Rs864309680(GAGA;GAGA) |
Significance | Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | BCOR |
CLNDBN | Congenital cataract |
Reversed | 1 |
HGVS | NC_000023.10:g.39921427_39921430delTCTC |
CLNSRC | |
CLNACC | RCV000203367.1, |