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rs121434264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434264(C;C)
Make rs121434264(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position193125171
GeneCDC73, LOC101929160
is asnp
is mentioned by
dbSNPrs121434264
ebirs121434264
HLIrs121434264
Exacrs121434264
Varsomers121434264
Maprs121434264
PheGenIrs121434264
hapmaprs121434264
1000 genomesrs121434264
hgdprs121434264
ensemblrs121434264
gopubmedrs121434264
geneviewrs121434264
scholarrs121434264
googlers121434264
pharmgkbrs121434264
gwascentralrs121434264
openSNPrs121434264
23andMers121434264
23andMe allrs121434264
SNP Nexus

SNPshotrs121434264
SNPdbers121434264
MSV3drs121434264
GWAS Ctlgrs121434264
Max Magnitude0
OMIM607393
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434264(C;C)
Alt rs121434264(C;C)
Reference rs121434264(T;T)
Significance Pathogenic
Disease Hyperparathyroidism 1
Variation info
Gene CDC73 LOC101929160
CLNDBN Hyperparathyroidism 1
Reversed 0
HGVS NC_000001.10:g.193094301T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003431.2,