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: rs201650281
rs201650281
KARS1
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs772410450
rs772410450
KARS1
5 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs781934508
rs781934508
SURF1
4 1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 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
12 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
9 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