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rs587777596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777596(C;T)
Make rs587777596(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position35805586
GeneNPR2
is asnp
is mentioned by
dbSNPrs587777596
dbSNP (classic)rs587777596
ClinGenrs587777596
ebirs587777596
HLIrs587777596
Exacrs587777596
Gnomadrs587777596
Varsomers587777596
LitVarrs587777596
Maprs587777596
PheGenIrs587777596
Biobankrs587777596
1000 genomesrs587777596
hgdprs587777596
ensemblrs587777596
geneviewrs587777596
scholarrs587777596
googlers587777596
pharmgkbrs587777596
gwascentralrs587777596
openSNPrs587777596
23andMers587777596
SNPshotrs587777596
SNPdbers587777596
MSV3drs587777596
GWAS Ctlgrs587777596
Max Magnitude0
ClinVar
Risk rs587777596(T;T)
Alt rs587777596(T;T)
Reference Rs587777596(C;C)
Significance Pathogenic
Disease Epiphyseal chondrodysplasia
Variation info
Gene NPR2
CLNDBN Epiphyseal chondrodysplasia, miura type
Reversed 0
HGVS NC_000009.11:g.35805583C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000132561.4,