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rs796065356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065356(C;G)
Make rs796065356(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position35800739
GeneNPR2
is asnp
is mentioned by
dbSNPrs796065356
dbSNP (classic)rs796065356
ClinGenrs796065356
ebirs796065356
HLIrs796065356
Exacrs796065356
Gnomadrs796065356
Varsomers796065356
LitVarrs796065356
Maprs796065356
PheGenIrs796065356
Biobankrs796065356
1000 genomesrs796065356
hgdprs796065356
ensemblrs796065356
geneviewrs796065356
scholarrs796065356
googlers796065356
pharmgkbrs796065356
gwascentralrs796065356
openSNPrs796065356
23andMers796065356
SNPshotrs796065356
SNPdbers796065356
MSV3drs796065356
GWAS Ctlgrs796065356
Max Magnitude0
ClinVar
Risk rs796065356(G;G)
Alt rs796065356(G;G)
Reference Rs796065356(C;C)
Significance Pathogenic
Disease Short stature with nonspecific skeletal abnormalities
Variation info
Gene NPR2
CLNDBN Short stature with nonspecific skeletal abnormalities
Reversed 0
HGVS NC_000009.11:g.35800736C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000190432.4,