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rs9282671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.5 small chance of slightly increasing risk for a form of glaucoma
(A;T) 1.5 small chance of slightly increasing risk for a form of glaucoma
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome2
Position38075148
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs9282671
ebirs9282671
HLIrs9282671
Exacrs9282671
Varsomers9282671
Maprs9282671
PheGenIrs9282671
hapmaprs9282671
1000 genomesrs9282671
hgdprs9282671
ensemblrs9282671
gopubmedrs9282671
geneviewrs9282671
scholarrs9282671
googlers9282671
pharmgkbrs9282671
gwascentralrs9282671
openSNPrs9282671
23andMers9282671
23andMe allrs9282671
SNP Nexus

SNPshotrs9282671
SNPdbers9282671
MSV3drs9282671
GWAS Ctlgrs9282671
GMAF0.003214
Max Magnitude1.5

rs9282671, also known as c.241T>A, p.Tyr81Asn and Y81N, is a variant in the CYP1B1 gene on chromosome 2.

The minor allele for this variant, rs9282671(A), was originally reported in 2004 as being an autosomal dominant mutation associated with adult-onset primary open angle glaucoma (POAG).[PMID 15342693OA-icon.png] Note that POAG is typically considered a disorder that is recessively inherited, and that the age of onset is known to be quite variable even for a given single mutation.

A functional study in 2008 concluded that this mutation (the Y81N variant) should be considered a hypomorphic allele rather than a mutation, since the enzymatic activity of corresponding protein was in between that of a classic CYP1B1 mutant and that of a normal protein.[PMID 18470941]

More recently, the variant has been categorized as benign in ClinVar. In ExAC, it is clearly a rare variant, with an average minor allele frequency of 0.006, but showing the highest frequency in Finnish European populations (0.04).

Overall, the significance of this variant is unclear. A person carrying one or more minor rs9282671 alleles may wish to bring this to the attention of relevant health-care providers, but it could well be medically unimportant.

OMIM601771
DescGLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
Variant0017
Relatedalso
Neighborrs28936700
Distance59


ClinVar
Risk rs9282671(A;A)
Alt rs9282671(A;A)
Reference rs9282671(T;T)
Significance Pathogenic
Disease Primary open angle glaucoma Coloboma not specified
Variation info
Gene CYP1B1
CLNDBN Primary open angle glaucoma Coloboma not specified
Reversed 1
HGVS NC_000002.11:g.38302291A>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008185.5, RCV000059337.2, RCV000078126.4,