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rs761780097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761780097(C;T)
Make rs761780097(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position57765296
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs761780097
dbSNP (classic)rs761780097
ClinGenrs761780097
ebirs761780097
HLIrs761780097
Exacrs761780097
Gnomadrs761780097
Varsomers761780097
LitVarrs761780097
Maprs761780097
PheGenIrs761780097
Biobankrs761780097
1000 genomesrs761780097
hgdprs761780097
ensemblrs761780097
geneviewrs761780097
scholarrs761780097
googlers761780097
pharmgkbrs761780097
gwascentralrs761780097
openSNPrs761780097
23andMers761780097
SNPshotrs761780097
SNPdbers761780097
MSV3drs761780097
GWAS Ctlgrs761780097
Max Magnitude0
ClinVar
Risk rs761780097(T;T)
Alt rs761780097(T;T)
Reference Rs761780097(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.58159079C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001734.3,