rs864309681
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864309681(-;-) |
Make rs864309681(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 31790816 |
Gene | PAX6 |
is a | snp |
is | mentioned by |
dbSNP | rs864309681 |
dbSNP (classic) | rs864309681 |
ClinGen | rs864309681 |
ebi | rs864309681 |
HLI | rs864309681 |
Exac | rs864309681 |
Gnomad | rs864309681 |
Varsome | rs864309681 |
LitVar | rs864309681 |
Map | rs864309681 |
PheGenI | rs864309681 |
Biobank | rs864309681 |
1000 genomes | rs864309681 |
hgdp | rs864309681 |
ensembl | rs864309681 |
geneview | rs864309681 |
scholar | rs864309681 |
rs864309681 | |
pharmgkb | rs864309681 |
gwascentral | rs864309681 |
openSNP | rs864309681 |
23andMe | rs864309681 |
SNPshot | rs864309681 |
SNPdbe | rs864309681 |
MSV3d | rs864309681 |
GWAS Ctlg | rs864309681 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309681(-;-) |
Alt | rs864309681(-;-) |
Reference | Rs864309681(C;C) |
Significance | Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | PAX6 |
CLNDBN | Congenital cataract |
Reversed | 1 |
HGVS | NC_000011.9:g.31812364delG |
CLNSRC | |
CLNACC | RCV000203337.1, |