rs61752895
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61752895(C;T) |
Make rs61752895(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 68439586 |
Gene | RPE65 |
is a | snp |
is | mentioned by |
dbSNP | rs61752895 |
dbSNP (classic) | rs61752895 |
ClinGen | rs61752895 |
ebi | rs61752895 |
HLI | rs61752895 |
Exac | rs61752895 |
Gnomad | rs61752895 |
Varsome | rs61752895 |
LitVar | rs61752895 |
Map | rs61752895 |
PheGenI | rs61752895 |
Biobank | rs61752895 |
1000 genomes | rs61752895 |
hgdp | rs61752895 |
ensembl | rs61752895 |
geneview | rs61752895 |
scholar | rs61752895 |
rs61752895 | |
pharmgkb | rs61752895 |
gwascentral | rs61752895 |
openSNP | rs61752895 |
23andMe | rs61752895 |
SNPshot | rs61752895 |
SNPdbe | rs61752895 |
MSV3d | rs61752895 |
GWAS Ctlg | rs61752895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752895(T;T) |
Alt | rs61752895(T;T) |
Reference | Rs61752895(C;C) |
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.68905269G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013993.17, RCV000085219.1, |