rs797045099
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CATTC;CATTC) | 0 | common in clinvar |
Make rs797045099(-;-) |
Make rs797045099(-;ATTCC) |
Make rs797045099(ATTCC;ATTCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 87745172 |
Gene | PAPSS2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045099 |
dbSNP (classic) | rs797045099 |
ClinGen | rs797045099 |
ebi | rs797045099 |
HLI | rs797045099 |
Exac | rs797045099 |
Gnomad | rs797045099 |
Varsome | rs797045099 |
LitVar | rs797045099 |
Map | rs797045099 |
PheGenI | rs797045099 |
Biobank | rs797045099 |
1000 genomes | rs797045099 |
hgdp | rs797045099 |
ensembl | rs797045099 |
geneview | rs797045099 |
scholar | rs797045099 |
rs797045099 | |
pharmgkb | rs797045099 |
gwascentral | rs797045099 |
openSNP | rs797045099 |
23andMe | rs797045099 |
SNPshot | rs797045099 |
SNPdbe | rs797045099 |
MSV3d | rs797045099 |
GWAS Ctlg | rs797045099 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045099(-;-) |
Alt | rs797045099(-;-) |
Reference | Rs797045099(CATTC;CATTC) |
Significance | Probable-Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia |
Variation | info |
Gene | PAPSS2 |
CLNDBN | Spondyloepimetaphyseal dysplasia, pakistani type |
Reversed | 0 |
HGVS | NC_000010.10:g.89504929_89504933delATTCC |
CLNSRC | |
CLNACC | RCV000190612.1, |