rs730882200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730882200(-;C) |
Make rs730882200(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 48953608 |
Gene | ARFGEF2 |
is a | snp |
is | mentioned by |
dbSNP | rs730882200 |
dbSNP (classic) | rs730882200 |
ClinGen | rs730882200 |
ebi | rs730882200 |
HLI | rs730882200 |
Exac | rs730882200 |
Gnomad | rs730882200 |
Varsome | rs730882200 |
LitVar | rs730882200 |
Map | rs730882200 |
PheGenI | rs730882200 |
Biobank | rs730882200 |
1000 genomes | rs730882200 |
hgdp | rs730882200 |
ensembl | rs730882200 |
geneview | rs730882200 |
scholar | rs730882200 |
rs730882200 | |
pharmgkb | rs730882200 |
gwascentral | rs730882200 |
openSNP | rs730882200 |
23andMe | rs730882200 |
SNPshot | rs730882200 |
SNPdbe | rs730882200 |
MSV3d | rs730882200 |
GWAS Ctlg | rs730882200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882200(C;C) |
Alt | rs730882200(C;C) |
Reference | Rs730882200(-;-) |
Significance | Pathogenic |
Disease | Global developmental delay Hydrocephalus Seizures not provided |
Variation | info |
Gene | ARFGEF2 |
CLNDBN | Global developmental delay Hydrocephalus Seizures not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.47570145dupC |
CLNSRC | King Faisal Specialist Hospital and Research Center |
CLNACC | RCV000162104.1, RCV000484140.1, |