rs782469310
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
(G;G) | 0 | common in clinvar |
Make rs782469310(A;A) |
Make rs782469310(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 47349721 |
Gene | RBP3 |
is a | snp |
is | mentioned by |
dbSNP | rs782469310 |
dbSNP (classic) | rs782469310 |
ClinGen | rs782469310 |
ebi | rs782469310 |
HLI | rs782469310 |
Exac | rs782469310 |
Gnomad | rs782469310 |
Varsome | rs782469310 |
LitVar | rs782469310 |
Map | rs782469310 |
PheGenI | rs782469310 |
Biobank | rs782469310 |
1000 genomes | rs782469310 |
hgdp | rs782469310 |
ensembl | rs782469310 |
geneview | rs782469310 |
scholar | rs782469310 |
rs782469310 | |
pharmgkb | rs782469310 |
gwascentral | rs782469310 |
openSNP | rs782469310 |
23andMe | rs782469310 |
SNPshot | rs782469310 |
SNPdbe | rs782469310 |
MSV3d | rs782469310 |
GWAS Ctlg | rs782469310 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782469310(A;A) |
Alt | rs782469310(A;A) |
Reference | Rs782469310(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | RBP3 |
CLNDBN | Retinal dystrophy |
Reversed | 0 |
HGVS | NC_000010.10:g.48389641G>A |
CLNSRC | |
CLNACC | RCV000210290.1, |