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rs587777597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777597(C;C)
Make rs587777597(C;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position35801668
GeneNPR2
is asnp
is mentioned by
dbSNPrs587777597
dbSNP (classic)rs587777597
ClinGenrs587777597
ebirs587777597
HLIrs587777597
Exacrs587777597
Gnomadrs587777597
Varsomers587777597
LitVarrs587777597
Maprs587777597
PheGenIrs587777597
Biobankrs587777597
1000 genomesrs587777597
hgdprs587777597
ensemblrs587777597
geneviewrs587777597
scholarrs587777597
googlers587777597
pharmgkbrs587777597
gwascentralrs587777597
openSNPrs587777597
23andMers587777597
SNPshotrs587777597
SNPdbers587777597
MSV3drs587777597
GWAS Ctlgrs587777597
Max Magnitude0
ClinVar
Risk rs587777597(A;A) rs587777597(C;C)
Alt rs587777597(A;A) rs587777597(C;C)
Reference Rs587777597(G;G)
Significance Pathogenic
Disease Epiphyseal chondrodysplasia
Variation info
Gene NPR2
CLNDBN Epiphyseal chondrodysplasia, miura type
Reversed 0
HGVS NC_000009.11:g.35801665G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000132562.3,