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rs28931581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28931581(A;A)
Make rs28931581(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position35792502
GeneNPR2
is asnp
is mentioned by
dbSNPrs28931581
ebirs28931581
HLIrs28931581
Exacrs28931581
Varsomers28931581
Maprs28931581
PheGenIrs28931581
hapmaprs28931581
1000 genomesrs28931581
hgdprs28931581
ensemblrs28931581
gopubmedrs28931581
geneviewrs28931581
scholarrs28931581
googlers28931581
pharmgkbrs28931581
gwascentralrs28931581
openSNPrs28931581
23andMers28931581
23andMe allrs28931581
SNP Nexus

SNPshotrs28931581
SNPdbers28931581
MSV3drs28931581
GWAS Ctlgrs28931581
Max Magnitude0
OMIM108961
DescACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Variant0001
Relatedalso
Neighborrs28931582
Distance249


ClinVar
Risk rs28931581(A;A)
Alt rs28931581(A;A)
Reference rs28931581(C;C)
Significance Pathogenic
Disease Acromesomelic dysplasia Maroteaux type
Variation info
Gene NPR2
CLNDBN Acromesomelic dysplasia Maroteaux type
Reversed 0
HGVS NC_000009.11:g.35792499C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019362.24,