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rs121912739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912739(C;T)
Make rs121912739(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position35800427
GeneNPR2
is asnp
is mentioned by
dbSNPrs121912739
ebirs121912739
HLIrs121912739
Exacrs121912739
Varsomers121912739
Maprs121912739
PheGenIrs121912739
hapmaprs121912739
1000 genomesrs121912739
hgdprs121912739
ensemblrs121912739
gopubmedrs121912739
geneviewrs121912739
scholarrs121912739
googlers121912739
pharmgkbrs121912739
gwascentralrs121912739
openSNPrs121912739
23andMers121912739
23andMe allrs121912739
SNP Nexus

SNPshotrs121912739
SNPdbers121912739
MSV3drs121912739
GWAS Ctlgrs121912739
Max Magnitude0
OMIM108961
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912739(T;T)
Alt rs121912739(T;T)
Reference rs121912739(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.35800424C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019365.28,