rs886039229
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886039229(A;G) |
Make rs886039229(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 74378046 |
Gene | DCTN1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039229 |
dbSNP (classic) | rs886039229 |
ClinGen | rs886039229 |
ebi | rs886039229 |
HLI | rs886039229 |
Exac | rs886039229 |
Gnomad | rs886039229 |
Varsome | rs886039229 |
LitVar | rs886039229 |
Map | rs886039229 |
PheGenI | rs886039229 |
Biobank | rs886039229 |
1000 genomes | rs886039229 |
hgdp | rs886039229 |
ensembl | rs886039229 |
geneview | rs886039229 |
scholar | rs886039229 |
rs886039229 | |
pharmgkb | rs886039229 |
gwascentral | rs886039229 |
openSNP | rs886039229 |
23andMe | rs886039229 |
SNPshot | rs886039229 |
SNPdbe | rs886039229 |
MSV3d | rs886039229 |
GWAS Ctlg | rs886039229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039229(G;G) |
Alt | rs886039229(G;G) |
Reference | Rs886039229(A;A) |
Significance | Pathogenic |
Disease | Perry syndrome |
Variation | info |
Gene | DCTN1 |
CLNDBN | Perry syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.74605173T>C |
CLNSRC | |
CLNACC | RCV000247326.1, |