rs869312812
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312812(-;C) |
Make rs869312812(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 39684626 |
Gene | PGAP3 |
is a | snp |
is | mentioned by |
dbSNP | rs869312812 |
dbSNP (classic) | rs869312812 |
ClinGen | rs869312812 |
ebi | rs869312812 |
HLI | rs869312812 |
Exac | rs869312812 |
Gnomad | rs869312812 |
Varsome | rs869312812 |
LitVar | rs869312812 |
Map | rs869312812 |
PheGenI | rs869312812 |
Biobank | rs869312812 |
1000 genomes | rs869312812 |
hgdp | rs869312812 |
ensembl | rs869312812 |
geneview | rs869312812 |
scholar | rs869312812 |
rs869312812 | |
pharmgkb | rs869312812 |
gwascentral | rs869312812 |
openSNP | rs869312812 |
23andMe | rs869312812 |
SNPshot | rs869312812 |
SNPdbe | rs869312812 |
MSV3d | rs869312812 |
GWAS Ctlg | rs869312812 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312812(C;C) |
Alt | rs869312812(C;C) |
Reference | Rs869312812(-;-) |
Significance | Pathogenic |
Disease | Hyperphosphatasia with mental retardation syndrome 4 |
Variation | info |
Gene | PGAP3 |
CLNDBN | Hyperphosphatasia with mental retardation syndrome 4 |
Reversed | 1 |
HGVS | NC_000017.10:g.37840880dupG |
CLNSRC | |
CLNACC | RCV000210252.1, |