rs754221308
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs754221308(C;C) |
Make rs754221308(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 15536988 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs754221308 |
dbSNP (classic) | rs754221308 |
ClinGen | rs754221308 |
ebi | rs754221308 |
HLI | rs754221308 |
Exac | rs754221308 |
Gnomad | rs754221308 |
Varsome | rs754221308 |
LitVar | rs754221308 |
Map | rs754221308 |
PheGenI | rs754221308 |
Biobank | rs754221308 |
1000 genomes | rs754221308 |
hgdp | rs754221308 |
ensembl | rs754221308 |
geneview | rs754221308 |
scholar | rs754221308 |
rs754221308 | |
pharmgkb | rs754221308 |
gwascentral | rs754221308 |
openSNP | rs754221308 |
23andMe | rs754221308 |
SNPshot | rs754221308 |
SNPdbe | rs754221308 |
MSV3d | rs754221308 |
GWAS Ctlg | rs754221308 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754221308(C;C) |
Alt | rs754221308(C;C) |
Reference | Rs754221308(T;T) |
Significance | Pathogenic |
Disease | Joubert syndrome 9 |
Variation | info |
Gene | CC2D2A |
CLNDBN | Joubert syndrome 9 |
Reversed | 0 |
HGVS | NC_000004.11:g.15538611T>C |
CLNSRC | |
CLNACC | RCV000201529.1, |