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rs523747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs523747(A;A)
Make rs523747(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position13124076
GeneOPTN
is asnp
is mentioned by
dbSNPrs523747
ClinGenrs523747
ebirs523747
HLIrs523747
Exacrs523747
Varsomers523747
Maprs523747
PheGenIrs523747
Biobankrs523747
1000 genomesrs523747
hgdprs523747
ensemblrs523747
gopubmedrs523747
geneviewrs523747
scholarrs523747
googlers523747
pharmgkbrs523747
gwascentralrs523747
openSNPrs523747
23andMers523747
23andMe allrs523747
SNP Nexus

SNPshotrs523747
SNPdbers523747
MSV3drs523747
GWAS Ctlgrs523747
GMAF0.008724
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene OPTN
allele G
frequency 1
sift TOLERATED
HuRef 1103649866394
Disease Association Defects in OPTN may be a cause of normal pressure glaucoma (NPG) (MIM:606657).



GET Evidence
OPTN-K322E
aa_change Lys322Glu
aa_change_short K322E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.991076
summary