rs879255233
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879255233(C;C) |
Make rs879255233(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 3824097 |
Gene | PGAP2 |
is a | snp |
is | mentioned by |
dbSNP | rs879255233 |
dbSNP (classic) | rs879255233 |
ClinGen | rs879255233 |
ebi | rs879255233 |
HLI | rs879255233 |
Exac | rs879255233 |
Gnomad | rs879255233 |
Varsome | rs879255233 |
LitVar | rs879255233 |
Map | rs879255233 |
PheGenI | rs879255233 |
Biobank | rs879255233 |
1000 genomes | rs879255233 |
hgdp | rs879255233 |
ensembl | rs879255233 |
geneview | rs879255233 |
scholar | rs879255233 |
rs879255233 | |
pharmgkb | rs879255233 |
gwascentral | rs879255233 |
openSNP | rs879255233 |
23andMe | rs879255233 |
SNPshot | rs879255233 |
SNPdbe | rs879255233 |
MSV3d | rs879255233 |
GWAS Ctlg | rs879255233 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255233(C;C) |
Alt | rs879255233(C;C) |
Reference | Rs879255233(T;T) |
Significance | Pathogenic |
Disease | Hyperphosphatasia with mental retardation syndrome 3 |
Variation | info |
Gene | PGAP2 |
CLNDBN | Hyperphosphatasia with mental retardation syndrome 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.3845327T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043537.3, |