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: rs17376456
rs17376456
KIAA0825 ; LOC105379087
1 1.000 0.120 5 94221997 intron variant A/G snv 8.7E-02 0.810 1.000 1 2011 2011
dbSNP: rs17404956
rs17404956 		1 1.000 0.120 5 166962488 regulatory region variant A/G snv 5.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs200903070
rs200903070
AKR1B1
1 1.000 0.120 7 134448044 missense variant G/A snv 6.4E-05 1.1E-04 0.010 1.000 1 2003 2003
dbSNP: rs202069793
rs202069793
LOC107987105
1 1.000 0.120 9 104713014 intergenic variant GA/- delins 0.63 0.700 1.000 1 2019 2019
dbSNP: rs2031236
rs2031236
UCHL3
1 1.000 0.120 13 75595641 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2038823
rs2038823
HS6ST3
1 1.000 0.120 13 96299179 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2055858
rs2055858
SORD
1 1.000 0.120 15 45022070 upstream gene variant G/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2070682
rs2070682
SERPINE1
1 1.000 0.120 7 101133986 intron variant T/C snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2104455
rs2104455 		1 1.000 0.120 6 9368285 intergenic variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs227453
rs227453 		1 1.000 0.120 6 165065309 intron variant A/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs227455
rs227455 		1 1.000 0.120 6 165064562 intron variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs2296146
rs2296146
UCHL3
1 1.000 0.120 13 75569436 non coding transcript exon variant T/A;C snv 4.5E-06; 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2300993
rs2300993
MAN2A1
1 1.000 0.120 5 109702928 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2328963
rs2328963
UCHL3
1 1.000 0.120 13 75601390 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2328964
rs2328964
UCHL3
1 1.000 0.120 13 75564694 intron variant G/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs2811893
rs2811893
MYSM1
1 1.000 0.120 1 58696476 intron variant T/C snv 0.39 0.800 1.000 1 2011 2011
dbSNP: rs3007729
rs3007729 		1 1.000 0.120 1 18468761 regulatory region variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3751624
rs3751624
MYO5C
2 1.000 0.120 15 52282973 intron variant C/T snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs3783028
rs3783028
UCHL3
1 1.000 0.120 13 75591146 intron variant T/C snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs3818355
rs3818355
LMO7 ; LMO7-AS1
1 1.000 0.120 13 75622731 intron variant C/T snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs3844492
rs3844492
ARHGAP22
1 1.000 0.120 10 48614756 intron variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs4470583
rs4470583 		1 1.000 0.120 4 161329780 intergenic variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs476141
rs476141
LINC02774
1 1.000 0.120 1 244013122 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs4787008
rs4787008
RBFOX1
1 1.000 0.120 16 7365551 intron variant A/G snv 0.87 0.800 1.000 1 2011 2011
dbSNP: rs4885322
rs4885322
UCHL3
1 1.000 0.120 13 75597195 intron variant A/G snv 0.77 0.700 1.000 1 2013 2013