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

rs2296241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2296241(A;A)
Make rs2296241(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position54169680
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs2296241
dbSNP (old)rs2296241
ClinGenrs2296241
ebirs2296241
HLIrs2296241
Exacrs2296241
Varsomers2296241
Maprs2296241
PheGenIrs2296241
Biobankrs2296241
1000 genomesrs2296241
hgdprs2296241
ensemblrs2296241
gopubmedrs2296241
geneviewrs2296241
scholarrs2296241
googlers2296241
pharmgkbrs2296241
gwascentralrs2296241
openSNPrs2296241
23andMers2296241
23andMe allrs2296241
SNP Nexus

SNPshotrs2296241
SNPdbers2296241
MSV3drs2296241
GWAS Ctlgrs2296241
GMAF0.472
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 23169318] Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients


[PMID 15651992OA-icon.png] Variants in the vitamin D receptor gene and asthma.


[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.


[PMID 17244366OA-icon.png] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.


[PMID 19454612OA-icon.png] Vitamin D pathway gene variants and prostate cancer risk.


[PMID 20687218OA-icon.png] Vitamin D pathway gene variants and prostate cancer prognosis.


[PMID 21828234OA-icon.png] Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.


[PMID 22612324] Vitamin D receptor, CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival.


[PMID 22690899OA-icon.png] Impaired vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma.


[PMID 26303648] Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk


ClinVar
Risk rs2296241(A;A)
Alt rs2296241(A;A)
Reference Rs2296241(G;G)
Significance Non-pathogenic
Disease Infantile hypercalcemia
Variation info
Gene CYP24A1
CLNDBN Infantile hypercalcemia
Reversed 0
HGVS NC_000020.10:g.52786219G>A
CLNSRC
CLNACC RCV000357015.1,