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rs876657376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs876657376(-;-)
Make rs876657376(-;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position54157395
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs876657376
dbSNP (classic)rs876657376
ClinGenrs876657376
ebirs876657376
HLIrs876657376
Exacrs876657376
Gnomadrs876657376
Varsomers876657376
LitVarrs876657376
Maprs876657376
PheGenIrs876657376
Biobankrs876657376
1000 genomesrs876657376
hgdprs876657376
ensemblrs876657376
geneviewrs876657376
scholarrs876657376
googlers876657376
pharmgkbrs876657376
gwascentralrs876657376
openSNPrs876657376
23andMers876657376
SNPshotrs876657376
SNPdbers876657376
MSV3drs876657376
GWAS Ctlgrs876657376
Max Magnitude0
ClinVar
Risk rs876657376(-;-)
Alt rs876657376(-;-)
Reference Rs876657376(CT;CT)
Significance Pathogenic
Disease Idiopathic hypercalcemia of infancy
Variation info
Gene CYP24A1
CLNDBN Idiopathic hypercalcemia of infancy
Reversed 1
HGVS NC_000020.10:g.52773934_52773935delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022526.29,