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: rs78351985
rs78351985
C4orf54
1 4 99655532 upstream gene variant A/G snv 3.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs734553
rs734553
SLC2A9
7 0.851 0.240 4 9921380 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1500896
rs1500896
C8orf37-AS1
1 8 95474454 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1302207706
rs1302207706
PON1
2 1.000 0.080 7 95316748 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2009 2016
dbSNP: rs752977102
rs752977102
APRT
3 0.925 0.120 16 88811577 missense variant G/C snv 2.8E-05 7.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs7195830
rs7195830
CYBA
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2013 2013
dbSNP: rs2296545
rs2296545
RNLS ; LIPJ
8 0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
dbSNP: rs17384213
rs17384213
DDAH1
1 1 85418938 intron variant G/A snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1020120
rs1020120
LOC102724036
2 1.000 0.080 9 84611173 intron variant C/T snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs7259572
rs7259572
CERS4
2 1.000 0.080 19 8226788 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9749262
rs9749262
CERS4
2 1.000 0.080 19 8223873 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7253584
rs7253584
CERS4
2 1.000 0.080 19 8222034 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs201631095
rs201631095
CERS4
2 1.000 0.080 19 8208084 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs7784820
rs7784820
CD36
1 7 80420717 intron variant A/G snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs1551122
rs1551122
OTOGL
2 1.000 0.080 12 80372020 missense variant A/G snv 0.58 0.50 0.700 1.000 1 2018 2018
dbSNP: rs6495446
rs6495446
MTHFS ; ST20-MTHFS
6 0.851 0.200 15 79862640 intron variant C/T snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs74183647
rs74183647
NFATC1 ; LOC107985163
3 18 79396171 5 prime UTR variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs55888180
rs55888180
DNAH17 ; LOC107985047
2 1.000 0.080 17 78447415 intron variant G/C snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs6465825
rs6465825 		4 1.000 0.080 7 77787122 downstream gene variant T/C snv 0.41 0.700 1.000 2 2010 2012
dbSNP: rs2276415
rs2276415
CLNS1A ; AQP11
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.020 1.000 2 2016 2019
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 2 2010 2012