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rs121434604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434604(C;T)
Make rs121434604(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46895866
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434604
ebirs121434604
HLIrs121434604
Exacrs121434604
Varsomers121434604
Maprs121434604
PheGenIrs121434604
hapmaprs121434604
1000 genomesrs121434604
hgdprs121434604
ensemblrs121434604
gopubmedrs121434604
geneviewrs121434604
scholarrs121434604
googlers121434604
pharmgkbrs121434604
gwascentralrs121434604
openSNPrs121434604
23andMers121434604
23andMe allrs121434604
SNP Nexus

SNPshotrs121434604
SNPdbers121434604
MSV3drs121434604
GWAS Ctlgrs121434604
Max Magnitude0
OMIM168468
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121434604(T;T)
Alt rs121434604(T;T)
Reference rs121434604(C;C)
Significance Pathogenic
Disease Chondrodysplasia Blomstrand type
Variation info
Gene PTH1R
CLNDBN Chondrodysplasia Blomstrand type
Reversed 0
HGVS NC_000003.11:g.46937356C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014757.24,