rs62642584
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62642584(A;A) |
Make rs62642584(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 68444825 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs62642584 |
dbSNP (classic) | rs62642584 |
ClinGen | rs62642584 |
ebi | rs62642584 |
HLI | rs62642584 |
Exac | rs62642584 |
Gnomad | rs62642584 |
Varsome | rs62642584 |
LitVar | rs62642584 |
Map | rs62642584 |
PheGenI | rs62642584 |
Biobank | rs62642584 |
1000 genomes | rs62642584 |
hgdp | rs62642584 |
ensembl | rs62642584 |
geneview | rs62642584 |
scholar | rs62642584 |
rs62642584 | |
pharmgkb | rs62642584 |
gwascentral | rs62642584 |
openSNP | rs62642584 |
23andMe | rs62642584 |
SNPshot | rs62642584 |
SNPdbe | rs62642584 |
MSV3d | rs62642584 |
GWAS Ctlg | rs62642584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62642584(A;A) rs62642584(T;T) |
Alt | rs62642584(A;A) rs62642584(T;T) |
Reference | Rs62642584(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | RPE65 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.68910508C>A; NC_000001.10:g.68910508C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085192.1, RCV000085191.1, |