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rs28929479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28929479(A;A)
Make rs28929479(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position35792936
GeneNPR2
is asnp
is mentioned by
dbSNPrs28929479
ebirs28929479
HLIrs28929479
Exacrs28929479
Varsomers28929479
Maprs28929479
PheGenIrs28929479
hapmaprs28929479
1000 genomesrs28929479
hgdprs28929479
ensemblrs28929479
gopubmedrs28929479
geneviewrs28929479
scholarrs28929479
googlers28929479
pharmgkbrs28929479
gwascentralrs28929479
openSNPrs28929479
23andMers28929479
23andMe allrs28929479
SNP Nexus

SNPshotrs28929479
SNPdbers28929479
MSV3drs28929479
GWAS Ctlgrs28929479
Max Magnitude0
OMIM108961
DescACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Variant0003
Relatedalso
Neighborrs28931582
Distance185


ClinVar
Risk rs28929479(A;A)
Alt rs28929479(A;A)
Reference rs28929479(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.35792933T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019364.28,