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rs11258194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs11258194(A;A)
Make rs11258194(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position13110400
GeneOPTN
is asnp
is mentioned by
dbSNPrs11258194
ebirs11258194
HLIrs11258194
Exacrs11258194
Varsomers11258194
Maprs11258194
PheGenIrs11258194
hapmaprs11258194
1000 genomesrs11258194
hgdprs11258194
ensemblrs11258194
gopubmedrs11258194
geneviewrs11258194
scholarrs11258194
googlers11258194
pharmgkbrs11258194
gwascentralrs11258194
openSNPrs11258194
23andMers11258194
23andMe allrs11258194
SNP Nexus

SNPshotrs11258194
SNPdbers11258194
MSV3drs11258194
GWAS Ctlgrs11258194
GMAF0.06795
Max Magnitude0
OMIM602432
DescGLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
Variant0004
Relatedalso
ClinVar
Risk rs11258194(A;A)
Alt rs11258194(A;A)
Reference rs11258194(T;T)
Significance Other
Disease Glaucoma Glaucoma 1 not specified
Variation info
Gene OPTN
CLNDBN Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, e not specified
Reversed 0
HGVS NC_000010.10:g.13152400T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007516.3, RCV000007517.3, RCV000177328.1,


GET Evidence
OPTN-M98K
aa_change Met98Lys
aa_change_short M98K
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0613497
summary This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.