rs386833750
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386833750(C;G) |
Make rs386833750(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 15563485 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs386833750 |
dbSNP (classic) | rs386833750 |
ClinGen | rs386833750 |
ebi | rs386833750 |
HLI | rs386833750 |
Exac | rs386833750 |
Gnomad | rs386833750 |
Varsome | rs386833750 |
LitVar | rs386833750 |
Map | rs386833750 |
PheGenI | rs386833750 |
Biobank | rs386833750 |
1000 genomes | rs386833750 |
hgdp | rs386833750 |
ensembl | rs386833750 |
geneview | rs386833750 |
scholar | rs386833750 |
rs386833750 | |
pharmgkb | rs386833750 |
gwascentral | rs386833750 |
openSNP | rs386833750 |
23andMe | rs386833750 |
SNPshot | rs386833750 |
SNPdbe | rs386833750 |
MSV3d | rs386833750 |
GWAS Ctlg | rs386833750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833750(A;A) rs386833750(G;G) rs386833750(T;T) |
Alt | rs386833750(A;A) rs386833750(G;G) rs386833750(T;T) |
Reference | Rs386833750(C;C) |
Significance | Pathogenic |
Disease | not specified Meckel syndrome type 6 COACH syndrome Joubert syndrome 9/15 Joubert syndrome |
Variation | info |
Gene | CC2D2A |
CLNDBN | not specified Meckel syndrome type 6 COACH syndrome Joubert syndrome 9/15, digenic Joubert syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.15565108C>A; NC_000004.11:g.15565108C>G; NC_000004.11:g.15565108C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000443511.1, RCV000049714.1, RCV000000783.2, RCV000023922.2, RCV000199602.1, |
[PMID 19777577] CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.