rs864309689
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs864309689(CC;T) |
Make rs864309689(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 208128399 |
Gene | CRYGC, LOC100507443 |
is a | snp |
is | mentioned by |
dbSNP | rs864309689 |
dbSNP (classic) | rs864309689 |
ClinGen | rs864309689 |
ebi | rs864309689 |
HLI | rs864309689 |
Exac | rs864309689 |
Gnomad | rs864309689 |
Varsome | rs864309689 |
LitVar | rs864309689 |
Map | rs864309689 |
PheGenI | rs864309689 |
Biobank | rs864309689 |
1000 genomes | rs864309689 |
hgdp | rs864309689 |
ensembl | rs864309689 |
geneview | rs864309689 |
scholar | rs864309689 |
rs864309689 | |
pharmgkb | rs864309689 |
gwascentral | rs864309689 |
openSNP | rs864309689 |
23andMe | rs864309689 |
SNPshot | rs864309689 |
SNPdbe | rs864309689 |
MSV3d | rs864309689 |
GWAS Ctlg | rs864309689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309689(T;T) |
Alt | rs864309689(T;T) |
Reference | Rs864309689(CC;CC) |
Significance | Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | CRYGC LOC100507443 |
CLNDBN | Congenital cataract |
Reversed | 1 |
HGVS | NC_000002.11:g.208993123_208993124delGGinsA |
CLNSRC | |
CLNACC | RCV000203369.1, |