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: rs765990518
rs765990518
SLC22A12
1 1.000 0.200 11 64599750 missense variant A/T snv 1.2E-04 4.9E-05 0.800 1.000 7 2002 2015
dbSNP: rs200104135
rs200104135
SLC22A12
1 1.000 0.200 11 64600740 missense variant C/A;T snv 4.1E-06; 1.2E-03 0.020 1.000 2 2018 2018
dbSNP: rs763684449
rs763684449
SLC22A12
3 0.925 0.200 11 64600799 missense variant C/A;T snv 9.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs121907893
rs121907893
SLC22A12
1 1.000 0.200 11 64593548 missense variant C/G;T snv 4.8E-05 0.800 0
dbSNP: rs1421770132
rs1421770132
SLC22A12
1 1.000 0.200 11 64598847 stop gained C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs561633150
rs561633150
SLC2A9
2 0.925 0.200 4 9980627 missense variant C/T snv 6.1E-04 9.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs121907896
rs121907896
SLC22A12
5 0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05 0.810 1.000 10 2004 2016
dbSNP: rs201181059
rs201181059
SLC22A12
1 1.000 0.200 11 64592866 missense variant G/A snv 1.0E-04 4.2E-05 0.700 1.000 7 2002 2015
dbSNP: rs1451506414
rs1451506414
SLC22A12
4 0.882 0.200 11 64598561 synonymous variant G/A snv 0.020 1.000 2 2008 2011
dbSNP: rs121907892
rs121907892
SLC22A12
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.750 1.000 12 2002 2016
dbSNP: rs1047976958
rs1047976958
SLC22A12
1 1.000 0.200 11 64599701 missense variant G/A;C snv 1.2E-05; 8.1E-06 0.700 1.000 7 2002 2015
dbSNP: rs149722479
rs149722479
SLC22A12
2 0.925 0.200 11 64592788 missense variant G/A;C snv 4.8E-05; 9.6E-05 0.700 0
dbSNP: rs773677616
rs773677616
SLC22A12
2 1.000 0.200 11 64600770 missense variant G/A;C;T snv 4.9E-05 0.700 0
dbSNP: rs121908321
rs121908321
SLC2A9
3 0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121907894
rs121907894
SLC22A12
1 1.000 0.200 11 64598579 missense variant G/A;T snv 8.4E-06 0.800 0
dbSNP: rs121907897
rs121907897
SLC22A12
1 1.000 0.200 11 64599687 missense variant G/T snv 0.700 0
dbSNP: rs753482595
rs753482595
SLC2A9
3 0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs121907895
rs121907895
SLC22A12
2 0.925 0.200 11 64599858 missense variant T/C;G snv 4.0E-06; 8.1E-06 0.800 0