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rs121434597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434597(A;G)
Make rs121434597(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46898691
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434597
ebirs121434597
HLIrs121434597
Exacrs121434597
Varsomers121434597
Maprs121434597
PheGenIrs121434597
hapmaprs121434597
1000 genomesrs121434597
hgdprs121434597
ensemblrs121434597
gopubmedrs121434597
geneviewrs121434597
scholarrs121434597
googlers121434597
pharmgkbrs121434597
gwascentralrs121434597
openSNPrs121434597
23andMers121434597
23andMe allrs121434597
SNP Nexus

SNPshotrs121434597
SNPdbers121434597
MSV3drs121434597
GWAS Ctlgrs121434597
Max Magnitude0
OMIM168468
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434597(G;G)
Alt rs121434597(G;G)
Reference rs121434597(A;A)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene PTH1R
CLNDBN Metaphyseal chondrodysplasia, Jansen type
Reversed 0
HGVS NC_000003.11:g.46940181A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014749.26,