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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2012 2017
dbSNP: rs218237
rs218237 		6 4 54528005 intergenic variant C/T snv 0.18 0.700 1.000 2 2010 2017
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 2 2010 2017
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.700 1.000 2 2010 2018
dbSNP: rs833805
rs833805
LOC101929705
3 6 44062274 non coding transcript exon variant A/G snv 0.92 0.700 1.000 2 2016 2018
dbSNP: rs1010269
rs1010269
BCAS3
1 17 61371584 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs10159477
rs10159477
HK1
3 10 69340132 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs1037814
rs1037814
AFF1
3 4 87128698 intron variant T/C snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs10480300
rs10480300
PRKAG2
6 0.925 0.120 7 151708919 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10494964
rs10494964
LOC105372912
2 1 213793544 intron variant T/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs10899133
rs10899133
UVRAG
1 11 75820650 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11072566
rs11072566
NRG4
5 0.925 0.120 15 76001630 intron variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs11072567
rs11072567
NRG4
5 15 76006403 intron variant A/G snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs11089823
rs11089823 		4 22 37113139 upstream gene variant T/C snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs11089824
rs11089824 		4 22 37113146 upstream gene variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs11122272
rs11122272
EXOC8
1 1 231335026 3 prime UTR variant A/G snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs111476047
rs111476047 		1 19 49548304 downstream gene variant -/GGTT delins 0.37 0.700 1.000 1 2016 2016
dbSNP: rs11377084
rs11377084
LINC01169
1 15 66651883 intron variant -/A ins 0.67 0.700 1.000 1 2016 2016
dbSNP: rs114948639
rs114948639
PRKCE
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs115986297
rs115986297
GMDS
3 6 2050557 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1160297
rs1160297
LOC105369165
3 2 53010182 intergenic variant G/C snv 0.69 0.700 1.000 1 2007 2007
dbSNP: rs116834467
rs116834467
POU5F1 ; PSORS1C3
1 6 31174193 intron variant C/A snv 0.700 1.000 1 2018 2018