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rs121434411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434411(A;A)
Make rs121434411(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position177493170
GeneAGPS
is asnp
is mentioned by
dbSNPrs121434411
ebirs121434411
HLIrs121434411
Exacrs121434411
Varsomers121434411
Maprs121434411
PheGenIrs121434411
hapmaprs121434411
1000 genomesrs121434411
hgdprs121434411
ensemblrs121434411
gopubmedrs121434411
geneviewrs121434411
scholarrs121434411
googlers121434411
pharmgkbrs121434411
gwascentralrs121434411
openSNPrs121434411
23andMers121434411
23andMe allrs121434411
SNP Nexus

SNPshotrs121434411
SNPdbers121434411
MSV3drs121434411
GWAS Ctlgrs121434411
Max Magnitude0
OMIM603051
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434411(A;A)
Alt rs121434411(A;A)
Reference rs121434411(G;G)
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.178357898G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007024.2,