rs61752878
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61752878(A;A) |
Make rs61752878(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 68444632 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs61752878 |
dbSNP (classic) | rs61752878 |
ClinGen | rs61752878 |
ebi | rs61752878 |
HLI | rs61752878 |
Exac | rs61752878 |
Gnomad | rs61752878 |
Varsome | rs61752878 |
LitVar | rs61752878 |
Map | rs61752878 |
PheGenI | rs61752878 |
Biobank | rs61752878 |
1000 genomes | rs61752878 |
hgdp | rs61752878 |
ensembl | rs61752878 |
geneview | rs61752878 |
scholar | rs61752878 |
rs61752878 | |
pharmgkb | rs61752878 |
gwascentral | rs61752878 |
openSNP | rs61752878 |
23andMe | rs61752878 |
SNPshot | rs61752878 |
SNPdbe | rs61752878 |
MSV3d | rs61752878 |
GWAS Ctlg | rs61752878 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752878(A;A) |
Alt | rs61752878(A;A) |
Reference | Rs61752878(G;G) |
Significance | Untested |
Disease | Retinitis pigmentosa 20 not provided not specified |
Variation | info |
Gene | RPE65 |
CLNDBN | Retinitis pigmentosa 20 not provided not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.68910315C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013998.24, RCV000085196.1, RCV000483376.1, |