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rs1057519333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519333(C;C)
Make rs1057519333(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position35806163
GeneNPR2
is asnp
is mentioned by
dbSNPrs1057519333
dbSNP (old)rs1057519333
ClinGenrs1057519333
ebirs1057519333
HLIrs1057519333
Exacrs1057519333
Gnomadrs1057519333
Varsomers1057519333
LitVarrs1057519333
Maprs1057519333
PheGenIrs1057519333
Biobankrs1057519333
1000 genomesrs1057519333
hgdprs1057519333
ensemblrs1057519333
gopubmedrs1057519333
geneviewrs1057519333
scholarrs1057519333
googlers1057519333
pharmgkbrs1057519333
gwascentralrs1057519333
openSNPrs1057519333
23andMers1057519333
23andMe allrs1057519333
SNPshotrs1057519333
SNPdbers1057519333
MSV3drs1057519333
GWAS Ctlgrs1057519333
Max Magnitude0
ClinVar
Risk rs1057519333(C;C)
Alt rs1057519333(C;C)
Reference Rs1057519333(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.35806160T>C
CLNSRC
CLNACC RCV000416364.1,