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rs121434602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434602(C;G)
Make rs121434602(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46902543
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434602
ebirs121434602
HLIrs121434602
Exacrs121434602
Varsomers121434602
Maprs121434602
PheGenIrs121434602
hapmaprs121434602
1000 genomesrs121434602
hgdprs121434602
ensemblrs121434602
gopubmedrs121434602
geneviewrs121434602
scholarrs121434602
googlers121434602
pharmgkbrs121434602
gwascentralrs121434602
openSNPrs121434602
23andMers121434602
23andMe allrs121434602
SNP Nexus

SNPshotrs121434602
SNPdbers121434602
MSV3drs121434602
GWAS Ctlgrs121434602
Max Magnitude0
OMIM168468
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434602(G,T;G,T)
Alt rs121434602(G,T;G,T)
Reference rs121434602(C;C)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene PTH1R
CLNDBN Metaphyseal chondrodysplasia, Jansen type
Reversed 0
HGVS NC_000003.11:g.46944033C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014755.24,