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: rs1561570
rs1561570
OPTN
2 0.925 0.080 10 13113726 intron variant T/C snv 0.43 0.820 1.000 4 2010 2018
dbSNP: rs825411
rs825411
OPTN
2 0.925 0.080 10 13127374 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2234968
rs2234968
OPTN
1 1.000 0.040 10 13109224 synonymous variant G/A;C snv 0.24; 4.0E-06 0.010 1.000 1 2018 2018