rs200407856
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200407856(A;A) |
Make rs200407856(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 15516005 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs200407856 |
dbSNP (classic) | rs200407856 |
ClinGen | rs200407856 |
ebi | rs200407856 |
HLI | rs200407856 |
Exac | rs200407856 |
Gnomad | rs200407856 |
Varsome | rs200407856 |
LitVar | rs200407856 |
Map | rs200407856 |
PheGenI | rs200407856 |
Biobank | rs200407856 |
1000 genomes | rs200407856 |
hgdp | rs200407856 |
ensembl | rs200407856 |
geneview | rs200407856 |
scholar | rs200407856 |
rs200407856 | |
pharmgkb | rs200407856 |
gwascentral | rs200407856 |
openSNP | rs200407856 |
23andMe | rs200407856 |
SNPshot | rs200407856 |
SNPdbe | rs200407856 |
MSV3d | rs200407856 |
GWAS Ctlg | rs200407856 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200407856(A;A) |
Alt | rs200407856(A;A) |
Reference | Rs200407856(G;G) |
Significance | Pathogenic |
Disease | not provided Joubert syndrome Joubert syndrome 9 |
Variation | info |
Gene | CC2D2A |
CLNDBN | not provided Joubert syndrome Joubert syndrome 9 |
Reversed | 0 |
HGVS | NC_000004.11:g.15517628G>A |
CLNSRC | HGMD |
CLNACC | RCV000152936.3, RCV000198057.1, RCV000201663.1, |