rs863224913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224913(-;-) |
Make rs863224913(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 21328424 |
Gene | RPGRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224913 |
dbSNP (classic) | rs863224913 |
ClinGen | rs863224913 |
ebi | rs863224913 |
HLI | rs863224913 |
Exac | rs863224913 |
Gnomad | rs863224913 |
Varsome | rs863224913 |
LitVar | rs863224913 |
Map | rs863224913 |
PheGenI | rs863224913 |
Biobank | rs863224913 |
1000 genomes | rs863224913 |
hgdp | rs863224913 |
ensembl | rs863224913 |
geneview | rs863224913 |
scholar | rs863224913 |
rs863224913 | |
pharmgkb | rs863224913 |
gwascentral | rs863224913 |
openSNP | rs863224913 |
23andMe | rs863224913 |
SNPshot | rs863224913 |
SNPdbe | rs863224913 |
MSV3d | rs863224913 |
GWAS Ctlg | rs863224913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224913(-;-) |
Alt | rs863224913(-;-) |
Reference | Rs863224913(G;G) |
Significance | Probable-Pathogenic |
Disease | Cone-rod dystrophy 13 |
Variation | info |
Gene | RPGRIP1 |
CLNDBN | Cone-rod dystrophy 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.21796583delG |
CLNSRC | |
CLNACC | RCV000195884.1, |