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rs121434599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434599(C;T)
Make rs121434599(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46897936
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434599
ebirs121434599
HLIrs121434599
Exacrs121434599
Varsomers121434599
Maprs121434599
PheGenIrs121434599
hapmaprs121434599
1000 genomesrs121434599
hgdprs121434599
ensemblrs121434599
gopubmedrs121434599
geneviewrs121434599
scholarrs121434599
googlers121434599
pharmgkbrs121434599
gwascentralrs121434599
openSNPrs121434599
23andMers121434599
23andMe allrs121434599
SNP Nexus

SNPshotrs121434599
SNPdbers121434599
MSV3drs121434599
GWAS Ctlgrs121434599
Max Magnitude0
OMIM168468
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434599(T;T)
Alt rs121434599(T;T)
Reference rs121434599(C;C)
Significance Pathogenic
Disease Chondrodysplasia Blomstrand type
Variation info
Gene PTH1R
CLNDBN Chondrodysplasia Blomstrand type
Reversed 0
HGVS NC_000003.11:g.46939426C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014752.19,