Have questions? Visit https://www.reddit.com/r/SNPedia

rs879255257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879255257(-;-)
Make rs879255257(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position35800126
GeneNPR2
is asnp
is mentioned by
dbSNPrs879255257
dbSNP (classic)rs879255257
ClinGenrs879255257
ebirs879255257
HLIrs879255257
Exacrs879255257
Gnomadrs879255257
Varsomers879255257
LitVarrs879255257
Maprs879255257
PheGenIrs879255257
Biobankrs879255257
1000 genomesrs879255257
hgdprs879255257
ensemblrs879255257
geneviewrs879255257
scholarrs879255257
googlers879255257
pharmgkbrs879255257
gwascentralrs879255257
openSNPrs879255257
23andMers879255257
SNPshotrs879255257
SNPdbers879255257
MSV3drs879255257
GWAS Ctlgrs879255257
Max Magnitude0
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,