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rs387907323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907323(G;T)
Make rs387907323(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position54171669
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs387907323
ebirs387907323
HLIrs387907323
Exacrs387907323
Varsomers387907323
Maprs387907323
PheGenIrs387907323
hapmaprs387907323
1000 genomesrs387907323
hgdprs387907323
ensemblrs387907323
gopubmedrs387907323
geneviewrs387907323
scholarrs387907323
googlers387907323
pharmgkbrs387907323
gwascentralrs387907323
openSNPrs387907323
23andMers387907323
23andMe allrs387907323
SNP Nexus

SNPshotrs387907323
SNPdbers387907323
MSV3drs387907323
GWAS Ctlgrs387907323
Max Magnitude0
ClinVar
Risk rs387907323(T;T)
Alt rs387907323(T;T)
Reference rs387907323(G;G)
Significance Pathogenic
Disease Idiopathic hypercalcemia of infancy
Variation info
Gene CYP24A1
CLNDBN Idiopathic hypercalcemia of infancy
Reversed 1
HGVS NC_000020.10:g.52788208C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033209.29,