rs879255257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879255257(-;-) |
Make rs879255257(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 35800126 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs879255257 |
dbSNP (classic) | rs879255257 |
ClinGen | rs879255257 |
ebi | rs879255257 |
HLI | rs879255257 |
Exac | rs879255257 |
Gnomad | rs879255257 |
Varsome | rs879255257 |
LitVar | rs879255257 |
Map | rs879255257 |
PheGenI | rs879255257 |
Biobank | rs879255257 |
1000 genomes | rs879255257 |
hgdp | rs879255257 |
ensembl | rs879255257 |
geneview | rs879255257 |
scholar | rs879255257 |
rs879255257 | |
pharmgkb | rs879255257 |
gwascentral | rs879255257 |
openSNP | rs879255257 |
23andMe | rs879255257 |
SNPshot | rs879255257 |
SNPdbe | rs879255257 |
MSV3d | rs879255257 |
GWAS Ctlg | rs879255257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255257(-;-) |
Alt | rs879255257(-;-) |
Reference | Rs879255257(T;T) |
Significance | Pathogenic |
Disease | Acromesomelic dysplasia Maroteaux type Short stature with nonspecific skeletal abnormalities |
Variation | info |
Gene | NPR2 |
CLNDBN | Acromesomelic dysplasia Maroteaux type Short stature with nonspecific skeletal abnormalities |
Reversed | 0 |
HGVS | NC_000009.11:g.35800123delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190426.3, RCV000190427.3, |