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rs28931582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28931582(G;G)
Make rs28931582(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position35792751
GeneNPR2
is asnp
is mentioned by
dbSNPrs28931582
ebirs28931582
HLIrs28931582
Exacrs28931582
Varsomers28931582
Maprs28931582
PheGenIrs28931582
hapmaprs28931582
1000 genomesrs28931582
hgdprs28931582
ensemblrs28931582
gopubmedrs28931582
geneviewrs28931582
scholarrs28931582
googlers28931582
pharmgkbrs28931582
gwascentralrs28931582
openSNPrs28931582
23andMers28931582
23andMe allrs28931582
SNP Nexus

SNPshotrs28931582
SNPdbers28931582
MSV3drs28931582
GWAS Ctlgrs28931582
Max Magnitude0
OMIM108961
DescACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Variant0002
Relatedalso
Neighborrs28931581
Distance249
Neighborrs28929479
Distance185


ClinVar
Risk rs28931582(G;G)
Alt rs28931582(G;G)
Reference rs28931582(T;T)
Significance Pathogenic
Disease Acromesomelic dysplasia Maroteaux type
Variation info
Gene NPR2
CLNDBN Acromesomelic dysplasia Maroteaux type
Reversed 0
HGVS NC_000009.11:g.35792748T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019363.24,