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rs121434603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434603(C;T)
Make rs121434603(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46903327
GenePTH1R
is asnp
is mentioned by
dbSNPrs121434603
ebirs121434603
HLIrs121434603
Exacrs121434603
Varsomers121434603
Maprs121434603
PheGenIrs121434603
hapmaprs121434603
1000 genomesrs121434603
hgdprs121434603
ensemblrs121434603
gopubmedrs121434603
geneviewrs121434603
scholarrs121434603
googlers121434603
pharmgkbrs121434603
gwascentralrs121434603
openSNPrs121434603
23andMers121434603
23andMe allrs121434603
SNP Nexus

SNPshotrs121434603
SNPdbers121434603
MSV3drs121434603
GWAS Ctlgrs121434603
Max Magnitude0
OMIM168468
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434603(T;T)
Alt rs121434603(T;T)
Reference rs121434603(C;C)
Significance Pathogenic
Disease Eiken skeletal dysplasia
Variation info
Gene PTH1R
CLNDBN Eiken skeletal dysplasia
Reversed 0
HGVS NC_000003.11:g.46944817C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014756.24,