rs61751281
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61751281(A;A) |
Make rs61751281(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 68446837 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs61751281 |
dbSNP (classic) | rs61751281 |
ClinGen | rs61751281 |
ebi | rs61751281 |
HLI | rs61751281 |
Exac | rs61751281 |
Gnomad | rs61751281 |
Varsome | rs61751281 |
LitVar | rs61751281 |
Map | rs61751281 |
PheGenI | rs61751281 |
Biobank | rs61751281 |
1000 genomes | rs61751281 |
hgdp | rs61751281 |
ensembl | rs61751281 |
geneview | rs61751281 |
scholar | rs61751281 |
rs61751281 | |
pharmgkb | rs61751281 |
gwascentral | rs61751281 |
openSNP | rs61751281 |
23andMe | rs61751281 |
SNPshot | rs61751281 |
SNPdbe | rs61751281 |
MSV3d | rs61751281 |
GWAS Ctlg | rs61751281 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751281(A;A) |
Alt | rs61751281(A;A) |
Reference | Rs61751281(G;G) |
Significance | Pathogenic |
Disease | not provided Retinitis pigmentosa |
Variation | info |
Gene | RPE65 |
CLNDBN | not provided Retinitis pigmentosa |
Reversed | 1 |
HGVS | NC_000001.10:g.68912520C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085155.2, RCV000132582.1, |