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rs121434600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434600(G;G)
Make rs121434600(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46902768
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434600
ebirs121434600
HLIrs121434600
Exacrs121434600
Varsomers121434600
Maprs121434600
PheGenIrs121434600
hapmaprs121434600
1000 genomesrs121434600
hgdprs121434600
ensemblrs121434600
gopubmedrs121434600
geneviewrs121434600
scholarrs121434600
googlers121434600
pharmgkbrs121434600
gwascentralrs121434600
openSNPrs121434600
23andMers121434600
23andMe allrs121434600
SNP Nexus

SNPshotrs121434600
SNPdbers121434600
MSV3drs121434600
GWAS Ctlgrs121434600
Max Magnitude0
OMIM168468
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434600(G;G)
Alt rs121434600(G;G)
Reference rs121434600(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene PTH1R
CLNDBN Metaphyseal chondrodysplasia, Jansen type
Reversed 0
HGVS NC_000003.11:g.46944258T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014754.25,