rs566433112
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs566433112(C;C) |
Make rs566433112(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 74378112 |
Gene | DCTN1 |
is a | snp |
is | mentioned by |
dbSNP | rs566433112 |
dbSNP (classic) | rs566433112 |
ClinGen | rs566433112 |
ebi | rs566433112 |
HLI | rs566433112 |
Exac | rs566433112 |
Gnomad | rs566433112 |
Varsome | rs566433112 |
LitVar | rs566433112 |
Map | rs566433112 |
PheGenI | rs566433112 |
Biobank | rs566433112 |
1000 genomes | rs566433112 |
hgdp | rs566433112 |
ensembl | rs566433112 |
geneview | rs566433112 |
scholar | rs566433112 |
rs566433112 | |
pharmgkb | rs566433112 |
gwascentral | rs566433112 |
openSNP | rs566433112 |
23andMe | rs566433112 |
SNPshot | rs566433112 |
SNPdbe | rs566433112 |
MSV3d | rs566433112 |
GWAS Ctlg | rs566433112 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs566433112(C;C) |
Alt | rs566433112(C;C) |
Reference | Rs566433112(T;T) |
Significance | Pathogenic |
Disease | Perry syndrome |
Variation | info |
Gene | DCTN1 |
CLNDBN | Perry syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.74605239T>C |
CLNSRC | |
CLNACC | RCV000250790.1, |