rs62636300
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs62636300(A;G) |
Make rs62636300(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 68431328 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs62636300 |
dbSNP (classic) | rs62636300 |
ClinGen | rs62636300 |
ebi | rs62636300 |
HLI | rs62636300 |
Exac | rs62636300 |
Gnomad | rs62636300 |
Varsome | rs62636300 |
LitVar | rs62636300 |
Map | rs62636300 |
PheGenI | rs62636300 |
Biobank | rs62636300 |
1000 genomes | rs62636300 |
hgdp | rs62636300 |
ensembl | rs62636300 |
geneview | rs62636300 |
scholar | rs62636300 |
rs62636300 | |
pharmgkb | rs62636300 |
gwascentral | rs62636300 |
openSNP | rs62636300 |
23andMe | rs62636300 |
SNPshot | rs62636300 |
SNPdbe | rs62636300 |
MSV3d | rs62636300 |
GWAS Ctlg | rs62636300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62636300(G;G) |
Alt | rs62636300(G;G) |
Reference | Rs62636300(A;A) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 2 not provided |
Variation | info |
Gene | RPE65 |
CLNDBN | Leber congenital amaurosis 2 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.68897011T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022754.18, RCV000085161.1, |