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rs1902023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1902023(G;G)
Make rs1902023(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position68670366
GeneUGT2B15
is asnp
is mentioned by
dbSNPrs1902023
ebirs1902023
HLIrs1902023
Exacrs1902023
Varsomers1902023
Maprs1902023
PheGenIrs1902023
hapmaprs1902023
1000 genomesrs1902023
hgdprs1902023
ensemblrs1902023
gopubmedrs1902023
geneviewrs1902023
scholarrs1902023
googlers1902023
pharmgkbrs1902023
gwascentralrs1902023
openSNPrs1902023
23andMers1902023
23andMe allrs1902023
SNP Nexus

SNPshotrs1902023
SNPdbers1902023
MSV3drs1902023
GWAS Ctlgrs1902023
GMAF0.4371
Max Magnitude0

[PMID 19572376] Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphism

OMIM600069
DescURIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15; UGT2B15
Variant
Relatedalso
OMIM601903
DescURIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17
Variant
Relatedalso
OMIM606497
DescURIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B28; UGT2B28
Variant
Relatedalso
[PMID 19572200OA-icon.png] Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.


[PMID 19847790OA-icon.png] Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15.


[PMID 21614655] UGT2B17 gene deletion associated with an increase in bone mineral density similar to the effect of hormone replacement in postmenopausal women.

GET Evidence
UGT2B15-D85Y
aa_change Asp85Tyr
aa_change_short D85Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0784314
summary



[PMID 24267955OA-icon.png] Novel associations of UDP-glucuronosyltransferase 2B gene variants with prostate cancer risk in a multiethnic study


ClinVar
Risk rs1902023(G;G)
Alt rs1902023(G;G)
Reference rs1902023(T;T)
Significance Drug-response
Disease oxazepam response - Other
Variation info
Gene UGT2B15
CLNDBN oxazepam response - Other
Reversed 1
HGVS NC_000004.11:g.69536084A>C
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211302.1,