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rs796065355

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796065355(C;C)
Make rs796065355(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position35792634
GeneNPR2
is asnp
is mentioned by
dbSNPrs796065355
ebirs796065355
HLIrs796065355
Exacrs796065355
Varsomers796065355
Maprs796065355
PheGenIrs796065355
hapmaprs796065355
1000 genomesrs796065355
hgdprs796065355
ensemblrs796065355
gopubmedrs796065355
geneviewrs796065355
scholarrs796065355
googlers796065355
pharmgkbrs796065355
gwascentralrs796065355
openSNPrs796065355
23andMers796065355
23andMe allrs796065355
SNP Nexus

SNPshotrs796065355
SNPdbers796065355
MSV3drs796065355
GWAS Ctlgrs796065355
Max Magnitude0
ClinVar
Risk rs796065355(C;C)
Alt rs796065355(C;C)
Reference rs796065355(T;T)
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.35792631T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190429.2,