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rs1057519324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519324(C;T)
Make rs1057519324(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position35801153
GeneNPR2
is asnp
is mentioned by
dbSNPrs1057519324
dbSNP (old)rs1057519324
ClinGenrs1057519324
ebirs1057519324
HLIrs1057519324
Exacrs1057519324
Gnomadrs1057519324
Varsomers1057519324
LitVarrs1057519324
Maprs1057519324
PheGenIrs1057519324
Biobankrs1057519324
1000 genomesrs1057519324
hgdprs1057519324
ensemblrs1057519324
gopubmedrs1057519324
geneviewrs1057519324
scholarrs1057519324
googlers1057519324
pharmgkbrs1057519324
gwascentralrs1057519324
openSNPrs1057519324
23andMers1057519324
23andMe allrs1057519324
SNPshotrs1057519324
SNPdbers1057519324
MSV3drs1057519324
GWAS Ctlgrs1057519324
Max Magnitude0
ClinVar
Risk rs1057519324(T;T)
Alt rs1057519324(T;T)
Reference Rs1057519324(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.35801150C>T
CLNSRC
CLNACC RCV000416343.1,