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: rs151231558
rs151231558
SLC22A5
1 1.000 0.160 5 132378408 missense variant G/A;T snv 1.2E-05; 5.6E-05 0.800 1.000 25 1990 2019
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370108 missense variant C/G;T snv 4.5E-04 0.800 1.000 24 1999 2017
dbSNP: rs121908890
rs121908890
SLC22A5
1 1.000 0.160 5 132384154 missense variant C/T snv 4.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs749282641
rs749282641
SLC22A5
1 1.000 0.160 5 132392576 missense variant C/A;T snv 8.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs386134221
rs386134221
SLC22A5
1 1.000 0.160 5 132392568 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.800 1.000 20 1999 2017
dbSNP: rs201082652
rs201082652
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370336 missense variant G/A;T snv 3.8E-04 0.800 1.000 19 1999 2017
dbSNP: rs386134210
rs386134210
SLC22A5
1 1.000 0.160 5 132387045 missense variant G/A;C snv 4.0E-06 0.800 1.000 19 1999 2017
dbSNP: rs1457258524
rs1457258524
SLC22A5
1 1.000 0.160 5 132385375 missense variant G/C snv 4.0E-06 0.700 1.000 18 1999 2017
dbSNP: rs150544263
rs150544263
SLC22A5
1 1.000 0.160 5 132389012 missense variant T/A;C snv 4.0E-06; 5.2E-05 0.700 1.000 18 1999 2017
dbSNP: rs201262157
rs201262157
SLC22A5
1 1.000 0.160 5 132385466 missense variant C/G;T snv 3.2E-05; 3.2E-05 0.700 1.000 18 1999 2017
dbSNP: rs267607052
rs267607052
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370015 missense variant G/T snv 9.6E-05 0.800 1.000 18 1999 2017
dbSNP: rs267607053
rs267607053
SLC22A5
1 1.000 0.160 5 132392489 missense variant GC/AT mnv 0.800 1.000 18 1999 2017
dbSNP: rs386134211
rs386134211
SLC22A5
1 1.000 0.160 5 132387049 missense variant G/T snv 0.700 1.000 18 1999 2017
dbSNP: rs386134214
rs386134214
SLC22A5
1 1.000 0.160 5 132390725 missense variant T/C snv 4.0E-06 0.700 1.000 18 1999 2017
dbSNP: rs386134219
rs386134219
SLC22A5
1 1.000 0.160 5 132392507 missense variant G/A;T snv 8.0E-06 0.700 1.000 18 1999 2017
dbSNP: rs68018207
rs68018207
SLC22A5
1 1.000 0.160 5 132389020 stop lost T/C snv 0.800 1.000 18 1999 2017
dbSNP: rs72552723
rs72552723
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370028 missense variant G/A;C snv 4.0E-06 0.700 1.000 18 1999 2017
dbSNP: rs72552724
rs72552724
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370055 missense variant G/T snv 0.700 1.000 18 1999 2017
dbSNP: rs72552728
rs72552728
SLC22A5
1 1.000 0.160 5 132385400 missense variant G/T snv 0.700 1.000 18 1999 2017
dbSNP: rs72552729
rs72552729
SLC22A5
1 1.000 0.160 5 132387047 missense variant T/A;C snv 0.700 1.000 18 1999 2017
dbSNP: rs72552730
rs72552730
SLC22A5
1 1.000 0.160 5 132387102 missense variant C/A;G snv 0.700 1.000 18 1999 2017
dbSNP: rs72552735
rs72552735
SLC22A5
1 1.000 0.160 5 132392598 missense variant C/T snv 0.800 1.000 18 1999 2017
dbSNP: rs121908893
rs121908893
SLC22A5
3 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.730 1.000 10 2002 2015
dbSNP: rs377767444
rs377767444
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370034 inframe deletion TTC/- delins 0.700 1.000 7 1990 2017
dbSNP: rs377767449
rs377767449
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370222 frameshift variant -/GGCTCGCCACC delins 0.700 1.000 6 2002 2017