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rs758478717

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758478717(C;T)
Make rs758478717(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position35792736
GeneNPR2
is asnp
is mentioned by
dbSNPrs758478717
ebirs758478717
HLIrs758478717
Exacrs758478717
Varsomers758478717
Maprs758478717
PheGenIrs758478717
hapmaprs758478717
1000 genomesrs758478717
hgdprs758478717
ensemblrs758478717
gopubmedrs758478717
geneviewrs758478717
scholarrs758478717
googlers758478717
pharmgkbrs758478717
gwascentralrs758478717
openSNPrs758478717
23andMers758478717
23andMe allrs758478717
SNP Nexus

SNPshotrs758478717
SNPdbers758478717
MSV3drs758478717
GWAS Ctlgrs758478717
Max Magnitude0
ClinVar
Risk rs758478717(T;T)
Alt rs758478717(T;T)
Reference rs758478717(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.35792733C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190431.2,