rs370880399
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370880399(C;T) |
Make rs370880399(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 15563395 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs370880399 |
dbSNP (classic) | rs370880399 |
ClinGen | rs370880399 |
ebi | rs370880399 |
HLI | rs370880399 |
Exac | rs370880399 |
Gnomad | rs370880399 |
Varsome | rs370880399 |
LitVar | rs370880399 |
Map | rs370880399 |
PheGenI | rs370880399 |
Biobank | rs370880399 |
1000 genomes | rs370880399 |
hgdp | rs370880399 |
ensembl | rs370880399 |
geneview | rs370880399 |
scholar | rs370880399 |
rs370880399 | |
pharmgkb | rs370880399 |
gwascentral | rs370880399 |
openSNP | rs370880399 |
23andMe | rs370880399 |
SNPshot | rs370880399 |
SNPdbe | rs370880399 |
MSV3d | rs370880399 |
GWAS Ctlg | rs370880399 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370880399(T;T) |
Alt | rs370880399(T;T) |
Reference | Rs370880399(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 9 not provided |
Variation | info |
Gene | CC2D2A |
CLNDBN | Joubert syndrome 9 not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.15565018C>T |
CLNSRC | |
CLNACC | RCV000201572.1, RCV000489696.1, |