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rs121434598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434598(A;C)
Make rs121434598(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position46902542
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434598
ebirs121434598
HLIrs121434598
Exacrs121434598
Varsomers121434598
Maprs121434598
PheGenIrs121434598
hapmaprs121434598
1000 genomesrs121434598
hgdprs121434598
ensemblrs121434598
gopubmedrs121434598
geneviewrs121434598
scholarrs121434598
googlers121434598
pharmgkbrs121434598
gwascentralrs121434598
openSNPrs121434598
23andMers121434598
23andMe allrs121434598
SNP Nexus

SNPshotrs121434598
SNPdbers121434598
MSV3drs121434598
GWAS Ctlgrs121434598
Max Magnitude0
OMIM168468
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434598(C;C)
Alt rs121434598(C;C)
Reference rs121434598(A;A)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene PTH1R
CLNDBN Metaphyseal chondrodysplasia, Jansen type
Reversed 0
HGVS NC_000003.11:g.46944032A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014750.25,