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rs121434412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434412(C;T)
Make rs121434412(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position177461948
GeneAGPS
is asnp
is mentioned by
dbSNPrs121434412
ebirs121434412
HLIrs121434412
Exacrs121434412
Varsomers121434412
Maprs121434412
PheGenIrs121434412
hapmaprs121434412
1000 genomesrs121434412
hgdprs121434412
ensemblrs121434412
gopubmedrs121434412
geneviewrs121434412
scholarrs121434412
googlers121434412
pharmgkbrs121434412
gwascentralrs121434412
openSNPrs121434412
23andMers121434412
23andMe allrs121434412
SNP Nexus

SNPshotrs121434412
SNPdbers121434412
MSV3drs121434412
GWAS Ctlgrs121434412
Max Magnitude0
OMIM603051
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434412(T;T)
Alt rs121434412(T;T)
Reference rs121434412(C;C)
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.178326676C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007025.2,