Gene: OPTN ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606929
rs267606929
OPTN
5 0.827 0.120 10 13132098 missense variant A/G snv 0.070 1.000 7 2011 2018
dbSNP: rs1363384405
rs1363384405
OPTN
1 1.000 0.080 10 13132130 missense variant A/G snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs184561087
rs184561087
OPTN
2 0.925 0.120 10 13110394 missense variant G/A;T snv 3.6E-05; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs267606928
rs267606928
OPTN
2 0.925 0.080 10 13125989 stop gained C/G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs747481280
rs747481280
OPTN
4 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs757107215
rs757107215
OPTN
1 1.000 0.080 10 13133515 missense variant G/C snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs776058639
rs776058639
OPTN
3 0.925 0.080 10 13112564 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs778424337
rs778424337
OPTN
1 1.000 0.080 10 13136822 missense variant G/C snv 2.4E-05 0.010 1.000 1 2019 2019