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rs1057519335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519335(A;A)
Make rs1057519335(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position35792968
GeneNPR2
is asnp
is mentioned by
dbSNPrs1057519335
dbSNP (classic)rs1057519335
ClinGenrs1057519335
ebirs1057519335
HLIrs1057519335
Exacrs1057519335
Gnomadrs1057519335
Varsomers1057519335
LitVarrs1057519335
Maprs1057519335
PheGenIrs1057519335
Biobankrs1057519335
1000 genomesrs1057519335
hgdprs1057519335
ensemblrs1057519335
geneviewrs1057519335
scholarrs1057519335
googlers1057519335
pharmgkbrs1057519335
gwascentralrs1057519335
openSNPrs1057519335
23andMers1057519335
SNPshotrs1057519335
SNPdbers1057519335
MSV3drs1057519335
GWAS Ctlgrs1057519335
Max Magnitude0
ClinVar
Risk rs1057519335(A;A)
Alt rs1057519335(A;A)
Reference Rs1057519335(T;T)
Significance Pathogenic
Disease Acromesomelic dysplasia Maroteaux type
Variation info
Gene NPR2
CLNDBN Acromesomelic dysplasia Maroteaux type
Reversed 0
HGVS NC_000009.11:g.35792965T>A
CLNSRC
CLNACC RCV000416349.1,