rs386833764
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAA;GAA) | 0 | common in clinvar |
Make rs386833764(-;-) |
Make rs386833764(-;GAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 15511391 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs386833764 |
dbSNP (classic) | rs386833764 |
ClinGen | rs386833764 |
ebi | rs386833764 |
HLI | rs386833764 |
Exac | rs386833764 |
Gnomad | rs386833764 |
Varsome | rs386833764 |
LitVar | rs386833764 |
Map | rs386833764 |
PheGenI | rs386833764 |
Biobank | rs386833764 |
1000 genomes | rs386833764 |
hgdp | rs386833764 |
ensembl | rs386833764 |
geneview | rs386833764 |
scholar | rs386833764 |
rs386833764 | |
pharmgkb | rs386833764 |
gwascentral | rs386833764 |
openSNP | rs386833764 |
23andMe | rs386833764 |
SNPshot | rs386833764 |
SNPdbe | rs386833764 |
MSV3d | rs386833764 |
GWAS Ctlg | rs386833764 |
GMAF | 0.04178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833764(-;-) |
Alt | rs386833764(-;-) |
Reference | Rs386833764(GAA;GAA) |
Significance | Probable-Pathogenic |
Disease | Meckel syndrome type 6 not specified Meckel-Gruber syndrome Joubert syndrome |
Variation | info |
Gene | CC2D2A |
CLNDBN | Meckel syndrome type 6 not specified Meckel-Gruber syndrome Joubert syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.15513014_15513016delGAA |
CLNSRC | HGMD |
CLNACC | RCV000049728.1, RCV000079448.5, RCV000283827.1, RCV000406351.1, |
[PMID 21068128] Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.