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: rs1463461589
rs1463461589
NTF4
1 1.000 0.040 19 49061660 missense variant A/G snv 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs146737847
rs146737847
SIX6 ; C14orf39
1 1.000 0.040 14 60509783 missense variant G/A snv 4.0E-03 4.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs16984299
rs16984299
TXNRD2
1 1.000 0.040 22 19876070 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs185815146
rs185815146
ENO4
1 1.000 0.040 10 116864069 intron variant G/A snv 2.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs1884054
rs1884054
ESR1
1 1.000 0.040 6 151970431 intron variant C/A snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs199476128
rs199476128
ATP8 ; COX1 ; COX2
1 1.000 0.040 MT 6480 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs200148764
rs200148764
CARD10
1 1.000 0.040 22 37508568 missense variant C/T snv 2.7E-04 1.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs200165736
rs200165736
COX1 ; COX2
1 1.000 0.040 MT 6253 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs201794655
rs201794655
CARD10
1 1.000 0.040 22 37492794 missense variant G/A snv 2.1E-04 2.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs2253592
rs2253592
ASB10
1 1.000 0.040 7 151181173 synonymous variant C/A;G;T snv 3.7E-05; 0.40; 1.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs28358580
rs28358580
ND1 ; RNR2
1 1.000 0.040 MT 2416 non coding transcript exon variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs2842980
rs2842980
SOD2
1 1.000 0.040 6 159679084 3 prime UTR variant A/T snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs3801994
rs3801994
CAV1
1 1.000 0.040 7 116550415 intron variant G/A snv 7.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs386741044
rs386741044
OPTN
1 1.000 0.040 10 13124076 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs4657473
rs4657473 		1 1.000 0.040 1 165717914 regulatory region variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs523747
rs523747
OPTN
1 1.000 0.040 10 13124076 missense variant G/A;C snv 7.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs537516822
rs537516822
PRPF8
1 1.000 0.040 17 1684498 missense variant A/G snv 2.8E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs5773704
rs5773704
KCNQ4
1 1.000 0.040 1 40814886 intron variant C/T snv 0.25 0.010 < 0.001 1 2016 2016
dbSNP: rs59892895
rs59892895
APBB2
1 1.000 0.040 4 40995241 intron variant T/C snv 6.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs693421
rs693421 		1 1.000 0.040 1 237935790 downstream gene variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs6994076
rs6994076
TTPA
1 1.000 0.040 8 63087002 upstream gene variant A/T snv 0.57 0.010 < 0.001 1 2013 2013
dbSNP: rs7098387
rs7098387 		1 1.000 0.040 10 20334544 regulatory region variant A/C;T snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs7159462
rs7159462
ESR2
1 1.000 0.040 14 64292158 intron variant C/T snv 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs737723
rs737723
SEC14L2
1 1.000 0.040 22 30406040 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs746418406
rs746418406
NTF4
1 1.000 0.040 19 49061453 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012