rs762998472
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs762998472(-;GGCATGTTTTGGCAGCGA) |
Make rs762998472(GGCATGTTTTGGCAGCGA;GGCATGTTTTGGCAGCGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 15527560 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs762998472 |
dbSNP (classic) | rs762998472 |
ClinGen | rs762998472 |
ebi | rs762998472 |
HLI | rs762998472 |
Exac | rs762998472 |
Gnomad | rs762998472 |
Varsome | rs762998472 |
LitVar | rs762998472 |
Map | rs762998472 |
PheGenI | rs762998472 |
Biobank | rs762998472 |
1000 genomes | rs762998472 |
hgdp | rs762998472 |
ensembl | rs762998472 |
geneview | rs762998472 |
scholar | rs762998472 |
rs762998472 | |
pharmgkb | rs762998472 |
gwascentral | rs762998472 |
openSNP | rs762998472 |
23andMe | rs762998472 |
SNPshot | rs762998472 |
SNPdbe | rs762998472 |
MSV3d | rs762998472 |
GWAS Ctlg | rs762998472 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762998472(GGCATGTTTTGGC;GGCATGTTTTGGC) rs762998472(GGCATGTTTTGGCAGCGA;GGCATGTTTTGGCAGCGA) |
Alt | rs762998472(GGCATGTTTTGGC;GGCATGTTTTGGC) rs762998472(GGCATGTTTTGGCAGCGA;GGCATGTTTTGGCAGCGA) |
Reference | Rs762998472(-;-) |
Significance | Pathogenic |
Disease | Joubert syndrome 9 |
Variation | info |
Gene | CC2D2A |
CLNDBN | Joubert syndrome 9 |
Reversed | 0 |
HGVS | NC_000004.11:g.15529183_15529184insGGCATGTTTTGGCAGCGA |
CLNSRC | |
CLNACC | RCV000201658.1, |