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: rs142812715
rs142812715
OPTN
1 1.000 0.040 10 13124053 missense variant A/T snv 1.5E-04 7.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs747481280
rs747481280
OPTN
4 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs895824243
rs895824243
OPTN
1 1.000 0.040 10 13110387 missense variant A/C snv 0.700 1.000 1 2017 2017