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rs759208930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759208930(C;T)
Make rs759208930(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position57763666
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs759208930
dbSNP (classic)rs759208930
ClinGenrs759208930
ebirs759208930
HLIrs759208930
Exacrs759208930
Gnomadrs759208930
Varsomers759208930
LitVarrs759208930
Maprs759208930
PheGenIrs759208930
Biobankrs759208930
1000 genomesrs759208930
hgdprs759208930
ensemblrs759208930
geneviewrs759208930
scholarrs759208930
googlers759208930
pharmgkbrs759208930
gwascentralrs759208930
openSNPrs759208930
23andMers759208930
23andMe allrs759208930
SNPshotrs759208930
SNPdbers759208930
MSV3drs759208930
GWAS Ctlgrs759208930
Max Magnitude0
ClinVar
Risk rs759208930(T;T)
Alt rs759208930(T;T)
Reference Rs759208930(C;C)
Significance Pathogenic
Disease Vitamin D-dependent rickets
Variation info
Gene CYP27B1
CLNDBN Vitamin D-dependent rickets, type 1
Reversed 0
HGVS NC_000012.11:g.58157449C>T
CLNSRC
CLNACC RCV000258015.1,