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rs121434413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434413(C;C)
Make rs121434413(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position177499661
GeneAGPS
is asnp
is mentioned by
dbSNPrs121434413
ebirs121434413
HLIrs121434413
Exacrs121434413
Varsomers121434413
Maprs121434413
PheGenIrs121434413
hapmaprs121434413
1000 genomesrs121434413
hgdprs121434413
ensemblrs121434413
gopubmedrs121434413
geneviewrs121434413
scholarrs121434413
googlers121434413
pharmgkbrs121434413
gwascentralrs121434413
openSNPrs121434413
23andMers121434413
23andMe allrs121434413
SNP Nexus

SNPshotrs121434413
SNPdbers121434413
MSV3drs121434413
GWAS Ctlgrs121434413
Max Magnitude0
OMIM603051
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434413(C;C)
Alt rs121434413(C;C)
Reference rs121434413(T;T)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 3
Variation info
Gene AGPS
CLNDBN Rhizomelic chondrodysplasia punctata type 3
Reversed 0
HGVS NC_000002.11:g.178364389T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007026.2,