rs121908466
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a bilateral frontoparietal polymicrogyria mutation |
Make rs121908466(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 57651398 |
Gene | ADGRG1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908466 |
dbSNP (classic) | rs121908466 |
ClinGen | rs121908466 |
ebi | rs121908466 |
HLI | rs121908466 |
Exac | rs121908466 |
Gnomad | rs121908466 |
Varsome | rs121908466 |
LitVar | rs121908466 |
Map | rs121908466 |
PheGenI | rs121908466 |
Biobank | rs121908466 |
1000 genomes | rs121908466 |
hgdp | rs121908466 |
ensembl | rs121908466 |
geneview | rs121908466 |
scholar | rs121908466 |
rs121908466 | |
pharmgkb | rs121908466 |
gwascentral | rs121908466 |
openSNP | rs121908466 |
23andMe | rs121908466 |
SNPshot | rs121908466 |
SNPdbe | rs121908466 |
MSV3d | rs121908466 |
GWAS Ctlg | rs121908466 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121908466(G;G) |
Alt | rs121908466(G;G) |
Reference | Rs121908466(A;A) |
Significance | Pathogenic |
Disease | Polymicrogyria |
Variation | info |
Gene | ADGRG1 GPR56 |
CLNDBN | Polymicrogyria, bilateral frontoparietal |
Reversed | 0 |
HGVS | NC_000016.9:g.57685310A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006189.4, |