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rs398122843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122843(A;A)
Make rs398122843(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46901797
GenePTH1R
is asnp
is mentioned by
dbSNPrs398122843
ebirs398122843
HLIrs398122843
Exacrs398122843
Varsomers398122843
Maprs398122843
PheGenIrs398122843
hapmaprs398122843
1000 genomesrs398122843
hgdprs398122843
ensemblrs398122843
gopubmedrs398122843
geneviewrs398122843
scholarrs398122843
googlers398122843
pharmgkbrs398122843
gwascentralrs398122843
openSNPrs398122843
23andMers398122843
23andMe allrs398122843
SNP Nexus

SNPshotrs398122843
SNPdbers398122843
MSV3drs398122843
GWAS Ctlgrs398122843
Max Magnitude0
ClinVar
Risk rs398122843(A;A)
Alt rs398122843(A;A)
Reference rs398122843(G;G)
Significance Pathogenic
Disease Chondrodysplasia Blomstrand type
Variation info
Gene PTH1R
CLNDBN Chondrodysplasia Blomstrand type
Reversed 0
HGVS NC_000003.11:g.46943287G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014751.19,