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rs387907324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907324(A;A)
Make rs387907324(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position54162743
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs387907324
dbSNP (classic)rs387907324
ClinGenrs387907324
ebirs387907324
HLIrs387907324
Exacrs387907324
Gnomadrs387907324
Varsomers387907324
LitVarrs387907324
Maprs387907324
PheGenIrs387907324
Biobankrs387907324
1000 genomesrs387907324
hgdprs387907324
ensemblrs387907324
geneviewrs387907324
scholarrs387907324
googlers387907324
pharmgkbrs387907324
gwascentralrs387907324
openSNPrs387907324
23andMers387907324
SNPshotrs387907324
SNPdbers387907324
MSV3drs387907324
GWAS Ctlgrs387907324
Max Magnitude0
ClinVar
Risk rs387907324(A;A)
Alt rs387907324(A;A)
Reference Rs387907324(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.52779282C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033211.29,