rs777006911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs777006911(A;A) |
Make rs777006911(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 20765636 |
Gene | PI4KA |
is a | snp |
is | mentioned by |
dbSNP | rs777006911 |
dbSNP (classic) | rs777006911 |
ClinGen | rs777006911 |
ebi | rs777006911 |
HLI | rs777006911 |
Exac | rs777006911 |
Gnomad | rs777006911 |
Varsome | rs777006911 |
LitVar | rs777006911 |
Map | rs777006911 |
PheGenI | rs777006911 |
Biobank | rs777006911 |
1000 genomes | rs777006911 |
hgdp | rs777006911 |
ensembl | rs777006911 |
geneview | rs777006911 |
scholar | rs777006911 |
rs777006911 | |
pharmgkb | rs777006911 |
gwascentral | rs777006911 |
openSNP | rs777006911 |
23andMe | rs777006911 |
SNPshot | rs777006911 |
SNPdbe | rs777006911 |
MSV3d | rs777006911 |
GWAS Ctlg | rs777006911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777006911(A;A) |
Alt | rs777006911(A;A) |
Reference | Rs777006911(G;G) |
Significance | Pathogenic |
Disease | Polymicrogyria |
Variation | info |
Gene | PI4KA |
CLNDBN | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
Reversed | 0 |
HGVS | NC_000022.10:g.21119924G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190465.3, |