rs786200933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs786200933(-;-) |
Make rs786200933(-;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 87743459 |
Gene | PAPSS2 |
is a | snp |
is | mentioned by |
dbSNP | rs786200933 |
dbSNP (classic) | rs786200933 |
ClinGen | rs786200933 |
ebi | rs786200933 |
HLI | rs786200933 |
Exac | rs786200933 |
Gnomad | rs786200933 |
Varsome | rs786200933 |
LitVar | rs786200933 |
Map | rs786200933 |
PheGenI | rs786200933 |
Biobank | rs786200933 |
1000 genomes | rs786200933 |
hgdp | rs786200933 |
ensembl | rs786200933 |
geneview | rs786200933 |
scholar | rs786200933 |
rs786200933 | |
pharmgkb | rs786200933 |
gwascentral | rs786200933 |
openSNP | rs786200933 |
23andMe | rs786200933 |
SNPshot | rs786200933 |
SNPdbe | rs786200933 |
MSV3d | rs786200933 |
GWAS Ctlg | rs786200933 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200933(-;-) |
Alt | rs786200933(-;-) |
Reference | Rs786200933(AG;AG) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia |
Variation | info |
Gene | PAPSS2 |
CLNDBN | Spondyloepimetaphyseal dysplasia, pakistani type |
Reversed | 0 |
HGVS | NC_000010.10:g.89503216_89503217delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032844.3, |