rs587777378
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs587777378(-;-) |
Make rs587777378(-;AAG) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 196912940 |
Gene | PGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777378 |
dbSNP (classic) | rs587777378 |
ClinGen | rs587777378 |
ebi | rs587777378 |
HLI | rs587777378 |
Exac | rs587777378 |
Gnomad | rs587777378 |
Varsome | rs587777378 |
LitVar | rs587777378 |
Map | rs587777378 |
PheGenI | rs587777378 |
Biobank | rs587777378 |
1000 genomes | rs587777378 |
hgdp | rs587777378 |
ensembl | rs587777378 |
geneview | rs587777378 |
scholar | rs587777378 |
rs587777378 | |
pharmgkb | rs587777378 |
gwascentral | rs587777378 |
openSNP | rs587777378 |
23andMe | rs587777378 |
SNPshot | rs587777378 |
SNPdbe | rs587777378 |
MSV3d | rs587777378 |
GWAS Ctlg | rs587777378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777378(-;-) |
Alt | rs587777378(-;-) |
Reference | Rs587777378(AAG;AAG) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | PGAP1 |
CLNDBN | Mental retardation, autosomal recessive 42 |
Reversed | 0 |
HGVS | NC_000002.11:g.197777664_197777666delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000118980.4, |