rs142164373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142164373(A;A) |
Make rs142164373(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 35090266 |
Gene | PIGO |
is a | snp |
is | mentioned by |
dbSNP | rs142164373 |
dbSNP (classic) | rs142164373 |
ClinGen | rs142164373 |
ebi | rs142164373 |
HLI | rs142164373 |
Exac | rs142164373 |
Gnomad | rs142164373 |
Varsome | rs142164373 |
LitVar | rs142164373 |
Map | rs142164373 |
PheGenI | rs142164373 |
Biobank | rs142164373 |
1000 genomes | rs142164373 |
hgdp | rs142164373 |
ensembl | rs142164373 |
geneview | rs142164373 |
scholar | rs142164373 |
rs142164373 | |
pharmgkb | rs142164373 |
gwascentral | rs142164373 |
openSNP | rs142164373 |
23andMe | rs142164373 |
SNPshot | rs142164373 |
SNPdbe | rs142164373 |
MSV3d | rs142164373 |
GWAS Ctlg | rs142164373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142164373(A;A) |
Alt | rs142164373(A;A) |
Reference | Rs142164373(G;G) |
Significance | Pathogenic |
Disease | Hyperphosphatasia with mental retardation syndrome 2 |
Variation | info |
Gene | PIGO |
CLNDBN | Hyperphosphatasia with mental retardation syndrome 2 |
Reversed | 0 |
HGVS | NC_000009.11:g.35090263G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029245.3, |