rs864309690
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864309690(-;-) |
Make rs864309690(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 17229437 |
Gene | VIM, VIM-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309690 |
dbSNP (classic) | rs864309690 |
ClinGen | rs864309690 |
ebi | rs864309690 |
HLI | rs864309690 |
Exac | rs864309690 |
Gnomad | rs864309690 |
Varsome | rs864309690 |
LitVar | rs864309690 |
Map | rs864309690 |
PheGenI | rs864309690 |
Biobank | rs864309690 |
1000 genomes | rs864309690 |
hgdp | rs864309690 |
ensembl | rs864309690 |
geneview | rs864309690 |
scholar | rs864309690 |
rs864309690 | |
pharmgkb | rs864309690 |
gwascentral | rs864309690 |
openSNP | rs864309690 |
23andMe | rs864309690 |
SNPshot | rs864309690 |
SNPdbe | rs864309690 |
MSV3d | rs864309690 |
GWAS Ctlg | rs864309690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309690(-;-) |
Alt | rs864309690(-;-) |
Reference | Rs864309690(C;C) |
Significance | Pathogenic |
Disease | Congenital cataract Cataract 30 |
Variation | info |
Gene | VIM-AS1 VIM |
CLNDBN | Congenital cataract Cataract 30, multiple types |
Reversed | 0 |
HGVS | NC_000010.10:g.17271436delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203397.1, RCV000488584.1, |