rs61751266
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs61751266(-;-) |
Make rs61751266(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 21312458 |
Gene | RPGRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs61751266 |
dbSNP (classic) | rs61751266 |
ClinGen | rs61751266 |
ebi | rs61751266 |
HLI | rs61751266 |
Exac | rs61751266 |
Gnomad | rs61751266 |
Varsome | rs61751266 |
LitVar | rs61751266 |
Map | rs61751266 |
PheGenI | rs61751266 |
Biobank | rs61751266 |
1000 genomes | rs61751266 |
hgdp | rs61751266 |
ensembl | rs61751266 |
geneview | rs61751266 |
scholar | rs61751266 |
rs61751266 | |
pharmgkb | rs61751266 |
gwascentral | rs61751266 |
openSNP | rs61751266 |
23andMe | rs61751266 |
SNPshot | rs61751266 |
SNPdbe | rs61751266 |
MSV3d | rs61751266 |
GWAS Ctlg | rs61751266 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751266(-;-) |
Alt | rs61751266(-;-) |
Reference | Rs61751266(A;A) |
Significance | Pathogenic |
Disease | not provided Leber congenital amaurosis 6 |
Variation | info |
Gene | RPGRIP1 |
CLNDBN | not provided Leber congenital amaurosis 6 |
Reversed | 0 |
HGVS | NC_000014.8:g.21780617delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000086238.1, RCV000171128.2, |