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

rs118204011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs118204011(C;T)
Make rs118204011(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57764487
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs118204011
ebirs118204011
HLIrs118204011
Exacrs118204011
Varsomers118204011
Maprs118204011
PheGenIrs118204011
hapmaprs118204011
1000 genomesrs118204011
hgdprs118204011
ensemblrs118204011
gopubmedrs118204011
geneviewrs118204011
scholarrs118204011
googlers118204011
pharmgkbrs118204011
gwascentralrs118204011
openSNPrs118204011
23andMers118204011
23andMe allrs118204011
SNP Nexus

SNPshotrs118204011
SNPdbers118204011
MSV3drs118204011
GWAS Ctlgrs118204011
Max Magnitude0
OMIM609506
Desc
Variant0016
Relatedalso
ClinVar
Risk rs118204011(T;T)
Alt rs118204011(T;T)
Reference rs118204011(C;C)
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.58158270G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001740.3,