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: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.030 0.667 3 2008 2016
dbSNP: rs10118757
rs10118757
MTAP
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1017119
rs1017119
C5
1 1.000 0.080 9 121045260 intron variant T/C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs10204475
rs10204475
UBR3
1 1.000 0.080 2 170076012 intron variant T/G snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.030 0.667 3 2010 2015
dbSNP: rs10400694
rs10400694 		1 1.000 0.080 14 84147550 intergenic variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1042031
rs1042031
APOB
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.020 1.000 2 2007 2018
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs10431036
rs10431036
BCO2
1 1.000 0.080 11 112176338 5 prime UTR variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10435816
rs10435816
IL33
2 1.000 0.080 9 6225535 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1044925
rs1044925
SOAT1
6 0.827 0.120 1 179354603 3 prime UTR variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2012
dbSNP: rs10487667
rs10487667
TBXAS1
1 1.000 0.080 7 139984244 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10489177
rs10489177
C1orf112 ; METTL18
4 0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1048990
rs1048990
PSMA6
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.020 0.500 2 2009 2013
dbSNP: rs1049255
rs1049255
CYBA
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2011 2011
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.030 0.667 3 2015 2019
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1051922
rs1051922
IFNB1
1 1.000 0.080 9 21077717 synonymous variant G/A snv 0.33 0.35 0.010 1.000 1 2020 2020
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2014 2014
dbSNP: rs1052053
rs1052053
PMF1 ; PMF1-BGLAP
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs1057293
rs1057293
SGK1
4 0.925 0.120 6 134172259 synonymous variant G/A snv 0.12 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1057335
rs1057335
SERPINF2
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.010 1.000 1 2019 2019