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rs387907322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907322(A;A)
Make rs387907322(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position54171644
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs387907322
ebirs387907322
HLIrs387907322
Exacrs387907322
Varsomers387907322
Maprs387907322
PheGenIrs387907322
hapmaprs387907322
1000 genomesrs387907322
hgdprs387907322
ensemblrs387907322
gopubmedrs387907322
geneviewrs387907322
scholarrs387907322
googlers387907322
pharmgkbrs387907322
gwascentralrs387907322
openSNPrs387907322
23andMers387907322
23andMe allrs387907322
SNP Nexus

SNPshotrs387907322
SNPdbers387907322
MSV3drs387907322
GWAS Ctlgrs387907322
Max Magnitude0
ClinVar
Risk rs387907322(A,C;A,C)
Alt rs387907322(A,C;A,C)
Reference rs387907322(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.52788183C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033205.29,