Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs201011613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;T) 6.4 Greatly reduced risk (~25 fold) for exfoliation syndrome
(T;T) 6.4 Greatly reduced risk (~25 fold) for exfoliation syndrome
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position73946425
GeneLOXL1
is asnp
is mentioned by
dbSNPrs201011613
dbSNP (old)rs201011613
ClinGenrs201011613
ebirs201011613
HLIrs201011613
Exacrs201011613
Gnomadrs201011613
Varsomers201011613
Maprs201011613
PheGenIrs201011613
Biobankrs201011613
1000 genomesrs201011613
hgdprs201011613
ensemblrs201011613
gopubmedrs201011613
geneviewrs201011613
scholarrs201011613
googlers201011613
pharmgkbrs201011613
gwascentralrs201011613
openSNPrs201011613
23andMers201011613
23andMe allrs201011613
SNPshotrs201011613
SNPdbers201011613
MSV3drs201011613
GWAS Ctlgrs201011613
Max Magnitude6.4

rs201011613, also known as Y407F, p.Phe407 and p.Tyr407Phe, is a very rare variant in the LOXL1 gene on chromosome 15. The minor allele is reported to have been seen (at least so far) exclusively in the Japanese population.

A large study published in 2017 involving deep resequencing of the entire LOXL1 and CACNA1A genes in 5,570 patients with exfoliation syndrome (XFS) plus 6,279 controls concluded that the rare rs201011613(T) allele provided strong protection against the development of XFS (OR ~25, p = 2.9 × 10e-14).[PMID 28553957]