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: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
dbSNP: rs1057518946
rs1057518946
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs121908552
rs121908552
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1445287184
rs1445287184
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1554781700
rs1554781700
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555735545
rs1555735545
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs781565158
rs781565158
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs1051660
rs1051660
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs16868943
rs16868943
3 1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 < 0.001 1 2016 2016
dbSNP: rs2835859
rs2835859
3 0.925 0.200 21 37645860 intron variant T/C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.050 0.800 5 2012 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.842 38 2003 2020
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.979 47 2004 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 1.000 6 2010 2018
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.050 1.000 5 2009 2019
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.050 1.000 5 2012 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 1.000 5 2010 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2019
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.040 1.000 4 2013 2018
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.040 1.000 4 2010 2018
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.030 1.000 3 2011 2019
dbSNP: rs11466112
rs11466112
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.030 1.000 3 2009 2019