Gene: OPA1 ×
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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2003 2011
dbSNP: rs104893753
rs104893753
OPA1
2 0.925 0.080 3 193643005 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1177373525
rs1177373525
OPA1 ; LOC102724808
2 0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1231502335
rs1231502335
OPA1
1 1.000 0.080 3 193643579 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs151103940
rs151103940
OPA1
3 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.010 1.000 1 2011 2011