Source: BEFREE ×
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: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
11 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs143319805
rs143319805
OPA1
10 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs201920319
rs201920319
THG1L
4 0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs431905511
rs431905511
SNCA
8 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs747176196
rs747176196
MFN2
3 1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2016 2016