rs863225203
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTATC;TTATC) | 0 | common in clinvar |
Make rs863225203(-;-) |
Make rs863225203(-;TATCT) |
Make rs863225203(TATCT;TATCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 58457967 |
Gene | KIAA0586 |
is a | snp |
is | mentioned by |
dbSNP | rs863225203 |
dbSNP (classic) | rs863225203 |
ClinGen | rs863225203 |
ebi | rs863225203 |
HLI | rs863225203 |
Exac | rs863225203 |
Gnomad | rs863225203 |
Varsome | rs863225203 |
LitVar | rs863225203 |
Map | rs863225203 |
PheGenI | rs863225203 |
Biobank | rs863225203 |
1000 genomes | rs863225203 |
hgdp | rs863225203 |
ensembl | rs863225203 |
geneview | rs863225203 |
scholar | rs863225203 |
rs863225203 | |
pharmgkb | rs863225203 |
gwascentral | rs863225203 |
openSNP | rs863225203 |
23andMe | rs863225203 |
SNPshot | rs863225203 |
SNPdbe | rs863225203 |
MSV3d | rs863225203 |
GWAS Ctlg | rs863225203 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225203(-;-) |
Alt | rs863225203(-;-) |
Reference | Rs863225203(TTATC;TTATC) |
Significance | Pathogenic |
Disease | Joubert syndrome 23 |
Variation | info |
Gene | KIAA0586 |
CLNDBN | Joubert syndrome 23 |
Reversed | 0 |
HGVS | NC_000014.8:g.58924685_58924689delTATCT |
CLNSRC | |
CLNACC | RCV000201780.1, |