rs606231242
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGGTAGTGGAACTTCTGCA;AGGTAGTGGAACTTCTGCA) | 0 | common in clinvar |
Make rs606231242(-;-) |
Make rs606231242(-;GTAGTGGAACTTCTGCAAG) |
Make rs606231242(GTAGTGGAACTTCTGCAAG;GTAGTGGAACTTCTGCAAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87714840 |
Gene | PAPSS2 |
is a | snp |
is | mentioned by |
dbSNP | rs606231242 |
dbSNP (classic) | rs606231242 |
ClinGen | rs606231242 |
ebi | rs606231242 |
HLI | rs606231242 |
Exac | rs606231242 |
Gnomad | rs606231242 |
Varsome | rs606231242 |
LitVar | rs606231242 |
Map | rs606231242 |
PheGenI | rs606231242 |
Biobank | rs606231242 |
1000 genomes | rs606231242 |
hgdp | rs606231242 |
ensembl | rs606231242 |
geneview | rs606231242 |
scholar | rs606231242 |
rs606231242 | |
pharmgkb | rs606231242 |
gwascentral | rs606231242 |
openSNP | rs606231242 |
23andMe | rs606231242 |
SNPshot | rs606231242 |
SNPdbe | rs606231242 |
MSV3d | rs606231242 |
GWAS Ctlg | rs606231242 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231242(-;-) |
Alt | rs606231242(-;-) |
Reference | Rs606231242(AGGTAGTGGAACTTCTGCA;AGGTAGTGGAACTTCTGCA) |
Significance | Pathogenic |
Disease | Spondyloepimetaphyseal dysplasia |
Variation | info |
Gene | PAPSS2 |
CLNDBN | Spondyloepimetaphyseal dysplasia, pakistani type |
Reversed | 0 |
HGVS | NC_000010.10:g.89474597_89474615del19 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032843.4, |