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rs6068812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs6068812(A;G)
Make rs6068812(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position54158096
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs6068812
dbSNP (classic)rs6068812
ClinGenrs6068812
ebirs6068812
HLIrs6068812
Exacrs6068812
Gnomadrs6068812
Varsomers6068812
LitVarrs6068812
Maprs6068812
PheGenIrs6068812
Biobankrs6068812
1000 genomesrs6068812
hgdprs6068812
ensemblrs6068812
geneviewrs6068812
scholarrs6068812
googlers6068812
pharmgkbrs6068812
gwascentralrs6068812
openSNPrs6068812
23andMers6068812
SNPshotrs6068812
SNPdbers6068812
MSV3drs6068812
GWAS Ctlgrs6068812
Max Magnitude0
? (A;A) (A;G) (G;G) 28



ClinVar
Risk rs6068812(G;G)
Alt rs6068812(G;G)
Reference Rs6068812(A;A)
Significance Pathogenic
Disease Idiopathic hypercalcemia of infancy
Variation info
Gene CYP24A1
CLNDBN Idiopathic hypercalcemia of infancy
Reversed 0
HGVS NC_000020.10:g.52774635A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033210.25,