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rs1057519334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519334(-;-)
Make rs1057519334(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position35802550
GeneNPR2
is asnp
is mentioned by
dbSNPrs1057519334
dbSNP (old)rs1057519334
ClinGenrs1057519334
ebirs1057519334
HLIrs1057519334
Exacrs1057519334
Gnomadrs1057519334
Varsomers1057519334
LitVarrs1057519334
Maprs1057519334
PheGenIrs1057519334
Biobankrs1057519334
1000 genomesrs1057519334
hgdprs1057519334
ensemblrs1057519334
gopubmedrs1057519334
geneviewrs1057519334
scholarrs1057519334
googlers1057519334
pharmgkbrs1057519334
gwascentralrs1057519334
openSNPrs1057519334
23andMers1057519334
23andMe allrs1057519334
SNPshotrs1057519334
SNPdbers1057519334
MSV3drs1057519334
GWAS Ctlgrs1057519334
Max Magnitude0
ClinVar
Risk rs1057519334(-;-)
Alt rs1057519334(-;-)
Reference Rs1057519334(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.35802547delC
CLNSRC
CLNACC RCV000416331.1,