rs372292910
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs372292910(-;-) |
Make rs372292910(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 141122913 |
Gene | PCDHB4 |
is a | snp |
is | mentioned by |
dbSNP | rs372292910 |
dbSNP (classic) | rs372292910 |
ClinGen | rs372292910 |
ebi | rs372292910 |
HLI | rs372292910 |
Exac | rs372292910 |
Gnomad | rs372292910 |
Varsome | rs372292910 |
LitVar | rs372292910 |
Map | rs372292910 |
PheGenI | rs372292910 |
Biobank | rs372292910 |
1000 genomes | rs372292910 |
hgdp | rs372292910 |
ensembl | rs372292910 |
geneview | rs372292910 |
scholar | rs372292910 |
rs372292910 | |
pharmgkb | rs372292910 |
gwascentral | rs372292910 |
openSNP | rs372292910 |
23andMe | rs372292910 |
SNPshot | rs372292910 |
SNPdbe | rs372292910 |
MSV3d | rs372292910 |
GWAS Ctlg | rs372292910 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372292910(-;-) |
Alt | rs372292910(-;-) |
Reference | Rs372292910(A;A) |
Significance | Probable-Pathogenic |
Disease | Intellectual disability Microcephaly Seizures |
Variation | info |
Gene | PCDHB4 |
CLNDBN | Intellectual disability Microcephaly Seizures |
Reversed | 0 |
HGVS | NC_000005.9:g.140502495delA |
CLNSRC | |
CLNACC | RCV000162121.1, |