rs61751276
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61751276(A;A) |
Make rs61751276(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 68449890 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs61751276 |
dbSNP (classic) | rs61751276 |
ClinGen | rs61751276 |
ebi | rs61751276 |
HLI | rs61751276 |
Exac | rs61751276 |
Gnomad | rs61751276 |
Varsome | rs61751276 |
LitVar | rs61751276 |
Map | rs61751276 |
PheGenI | rs61751276 |
Biobank | rs61751276 |
1000 genomes | rs61751276 |
hgdp | rs61751276 |
ensembl | rs61751276 |
geneview | rs61751276 |
scholar | rs61751276 |
rs61751276 | |
pharmgkb | rs61751276 |
gwascentral | rs61751276 |
openSNP | rs61751276 |
23andMe | rs61751276 |
SNPshot | rs61751276 |
SNPdbe | rs61751276 |
MSV3d | rs61751276 |
GWAS Ctlg | rs61751276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751276(A;A) |
Alt | rs61751276(A;A) |
Reference | Rs61751276(G;G) |
Significance | Pathogenic |
Disease | not provided Leber congenital amaurosis 2 |
Variation | info |
Gene | RPE65 |
CLNDBN | not provided Leber congenital amaurosis 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.68915573C>T |
CLNSRC | |
CLNACC | RCV000085149.1, RCV000314474.1, |