rs730882245
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730882245(A;A) |
Make rs730882245(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 122207168 |
Gene | KIAA1109 |
is a | snp |
is | mentioned by |
dbSNP | rs730882245 |
dbSNP (classic) | rs730882245 |
ClinGen | rs730882245 |
ebi | rs730882245 |
HLI | rs730882245 |
Exac | rs730882245 |
Gnomad | rs730882245 |
Varsome | rs730882245 |
LitVar | rs730882245 |
Map | rs730882245 |
PheGenI | rs730882245 |
Biobank | rs730882245 |
1000 genomes | rs730882245 |
hgdp | rs730882245 |
ensembl | rs730882245 |
geneview | rs730882245 |
scholar | rs730882245 |
rs730882245 | |
pharmgkb | rs730882245 |
gwascentral | rs730882245 |
openSNP | rs730882245 |
23andMe | rs730882245 |
SNPshot | rs730882245 |
SNPdbe | rs730882245 |
MSV3d | rs730882245 |
GWAS Ctlg | rs730882245 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882245(A;A) |
Alt | rs730882245(A;A) |
Reference | Rs730882245(T;T) |
Significance | Probable-Pathogenic |
Disease | Dandy-Walker malformation Flexed deformity Hydrocephalus Micrognathia Pleural effusion Talipes equinovarus |
Variation | info |
Gene | KIAA1109 |
CLNDBN | Dandy-Walker malformation Flexed deformity Hydrocephalus Micrognathia Pleural effusion Talipes equinovarus |
Reversed | 0 |
HGVS | NC_000004.11:g.123128323T>A |
CLNSRC | |
CLNACC | RCV000162181.1, |