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rs61495246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61495246(C;C)
Make rs61495246(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position14885847
GeneCYP2R1
is asnp
is mentioned by
dbSNPrs61495246
ebirs61495246
HLIrs61495246
Exacrs61495246
Varsomers61495246
Maprs61495246
PheGenIrs61495246
hapmaprs61495246
1000 genomesrs61495246
hgdprs61495246
ensemblrs61495246
gopubmedrs61495246
geneviewrs61495246
scholarrs61495246
googlers61495246
pharmgkbrs61495246
gwascentralrs61495246
openSNPrs61495246
23andMers61495246
23andMe allrs61495246
SNP Nexus

SNPshotrs61495246
SNPdbers61495246
MSV3drs61495246
GWAS Ctlgrs61495246
GMAF0.0009183
Max Magnitude0
OMIM608713
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61495246(C;C)
Alt rs61495246(C;C)
Reference rs61495246(T;T)
Significance Pathogenic
Disease Vitamin d hydroxylation-deficient rickets
Variation info
Gene CYP2R1
CLNDBN Vitamin d hydroxylation-deficient rickets, type 1b
Reversed 1
HGVS NC_000011.9:g.14907393A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002216.2,