rs863225175
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTCT;CTCT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCTC;TCTC) | 0 | common in clinvar |
Make rs863225175(-;-) |
Make rs863225175(-;TCTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 15601405 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs863225175 |
dbSNP (classic) | rs863225175 |
ClinGen | rs863225175 |
ebi | rs863225175 |
HLI | rs863225175 |
Exac | rs863225175 |
Gnomad | rs863225175 |
Varsome | rs863225175 |
LitVar | rs863225175 |
Map | rs863225175 |
PheGenI | rs863225175 |
Biobank | rs863225175 |
1000 genomes | rs863225175 |
hgdp | rs863225175 |
ensembl | rs863225175 |
geneview | rs863225175 |
scholar | rs863225175 |
rs863225175 | |
pharmgkb | rs863225175 |
gwascentral | rs863225175 |
openSNP | rs863225175 |
23andMe | rs863225175 |
SNPshot | rs863225175 |
SNPdbe | rs863225175 |
MSV3d | rs863225175 |
GWAS Ctlg | rs863225175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225175(-;-) Rs863225175(CTCT;CTCT) |
Alt | rs863225175(-;-) Rs863225175(CTCT;CTCT) |
Reference | Rs863225175(TCTC;TCTC) |
Significance | Pathogenic |
Disease | Joubert syndrome 9 |
Variation | info |
Gene | CC2D2A |
CLNDBN | Joubert syndrome 9 |
Reversed | 0 |
HGVS | NC_000004.11:g.15603028_15603031delTCTC |
CLNSRC | |
CLNACC | RCV000201615.1, |