rs863225219
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863225219(G;T) |
Make rs863225219(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 53610966 |
Gene | RPGRIP1L |
is a | snp |
is | mentioned by |
dbSNP | rs863225219 |
dbSNP (classic) | rs863225219 |
ClinGen | rs863225219 |
ebi | rs863225219 |
HLI | rs863225219 |
Exac | rs863225219 |
Gnomad | rs863225219 |
Varsome | rs863225219 |
LitVar | rs863225219 |
Map | rs863225219 |
PheGenI | rs863225219 |
Biobank | rs863225219 |
1000 genomes | rs863225219 |
hgdp | rs863225219 |
ensembl | rs863225219 |
geneview | rs863225219 |
scholar | rs863225219 |
rs863225219 | |
pharmgkb | rs863225219 |
gwascentral | rs863225219 |
openSNP | rs863225219 |
23andMe | rs863225219 |
SNPshot | rs863225219 |
SNPdbe | rs863225219 |
MSV3d | rs863225219 |
GWAS Ctlg | rs863225219 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225219(T;T) |
Alt | rs863225219(T;T) |
Reference | Rs863225219(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 7 |
Variation | info |
Gene | RPGRIP1L |
CLNDBN | Joubert syndrome 7 |
Reversed | 1 |
HGVS | NC_000016.9:g.53644878C>A |
CLNSRC | |
CLNACC | RCV000201765.1, |