Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906260(-;-)
Make rs387906260(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57766131
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs387906260
ebirs387906260
HLIrs387906260
Exacrs387906260
Varsomers387906260
Maprs387906260
PheGenIrs387906260
hapmaprs387906260
1000 genomesrs387906260
hgdprs387906260
ensemblrs387906260
gopubmedrs387906260
geneviewrs387906260
scholarrs387906260
googlers387906260
pharmgkbrs387906260
gwascentralrs387906260
openSNPrs387906260
23andMers387906260
23andMe allrs387906260
SNP Nexus

SNPshotrs387906260
SNPdbers387906260
MSV3drs387906260
GWAS Ctlgrs387906260
Max Magnitude0
ClinVar
Risk rs387906260(;)
Alt rs387906260(;)
Reference rs387906260(G;G)
Significance Pathogenic
Disease Vitamin D-dependent rickets
Variation info
Gene CYP27B1
CLNDBN Vitamin D-dependent rickets, type 1
Reversed 1
HGVS NC_000012.11:g.58159914delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001731.2,