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rs587777595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777595(A;A)
Make rs587777595(A;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position35807333
GeneNPR2, SPAG8
is asnp
is mentioned by
dbSNPrs587777595
ebirs587777595
HLIrs587777595
Exacrs587777595
Varsomers587777595
Maprs587777595
PheGenIrs587777595
hapmaprs587777595
1000 genomesrs587777595
hgdprs587777595
ensemblrs587777595
gopubmedrs587777595
geneviewrs587777595
scholarrs587777595
googlers587777595
pharmgkbrs587777595
gwascentralrs587777595
openSNPrs587777595
23andMers587777595
23andMe allrs587777595
SNP Nexus

SNPshotrs587777595
SNPdbers587777595
MSV3drs587777595
GWAS Ctlgrs587777595
Max Magnitude0
ClinVar
Risk rs587777595(A;A)
Alt rs587777595(A;A)
Reference rs587777595(G;G)
Significance Pathogenic
Disease Epiphyseal chondrodysplasia
Variation info
Gene SPAG8 NPR2
CLNDBN Epiphyseal chondrodysplasia, miura type
Reversed 0
HGVS NC_000009.11:g.35807330G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000132560.3,