rs786200934
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786200934(-;-) |
Make rs786200934(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 87715006 |
Gene | PAPSS2 |
is a | snp |
is | mentioned by |
dbSNP | rs786200934 |
dbSNP (classic) | rs786200934 |
ClinGen | rs786200934 |
ebi | rs786200934 |
HLI | rs786200934 |
Exac | rs786200934 |
Gnomad | rs786200934 |
Varsome | rs786200934 |
LitVar | rs786200934 |
Map | rs786200934 |
PheGenI | rs786200934 |
Biobank | rs786200934 |
1000 genomes | rs786200934 |
hgdp | rs786200934 |
ensembl | rs786200934 |
geneview | rs786200934 |
scholar | rs786200934 |
rs786200934 | |
pharmgkb | rs786200934 |
gwascentral | rs786200934 |
openSNP | rs786200934 |
23andMe | rs786200934 |
SNPshot | rs786200934 |
SNPdbe | rs786200934 |
MSV3d | rs786200934 |
GWAS Ctlg | rs786200934 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200934(-;-) |
Alt | rs786200934(-;-) |
Reference | Rs786200934(A;A) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia |
Variation | info |
Gene | PAPSS2 |
CLNDBN | Spondyloepimetaphyseal dysplasia, pakistani type |
Reversed | 0 |
HGVS | NC_000010.10:g.89474763delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032846.3, |