rs869025323
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869025323(A;A) |
Make rs869025323(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 88523797 |
Gene | LOC101929134, PIGY, PYURF |
is a | snp |
is | mentioned by |
dbSNP | rs869025323 |
dbSNP (classic) | rs869025323 |
ClinGen | rs869025323 |
ebi | rs869025323 |
HLI | rs869025323 |
Exac | rs869025323 |
Gnomad | rs869025323 |
Varsome | rs869025323 |
LitVar | rs869025323 |
Map | rs869025323 |
PheGenI | rs869025323 |
Biobank | rs869025323 |
1000 genomes | rs869025323 |
hgdp | rs869025323 |
ensembl | rs869025323 |
geneview | rs869025323 |
scholar | rs869025323 |
rs869025323 | |
pharmgkb | rs869025323 |
gwascentral | rs869025323 |
openSNP | rs869025323 |
23andMe | rs869025323 |
SNPshot | rs869025323 |
SNPdbe | rs869025323 |
MSV3d | rs869025323 |
GWAS Ctlg | rs869025323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025323(A;A) |
Alt | rs869025323(A;A) |
Reference | Rs869025323(G;G) |
Significance | Pathogenic |
Disease | Hyperphosphatasia with mental retardation syndrome 6 |
Variation | info |
Gene | PIGY PYURF LOC101929134 |
CLNDBN | Hyperphosphatasia with mental retardation syndrome 6 |
Reversed | 1 |
HGVS | NC_000004.11:g.89444948C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207473.1, |