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: rs1022453298
rs1022453298
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370023 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516402
rs1057516402
SLC22A5
1 1.000 0.160 5 132394183 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057516765
rs1057516765
SLC22A5
1 1.000 0.160 5 132378475 stop gained C/G snv 0.700 0
dbSNP: rs1057516797
rs1057516797
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370127 frameshift variant -/GACGCCG delins 0.700 0
dbSNP: rs1057516805
rs1057516805
SLC22A5
1 1.000 0.160 5 132387024 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1057517069
rs1057517069
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370366 splice donor variant G/A snv 0.700 0
dbSNP: rs1057517106
rs1057517106
SLC22A5
1 1.000 0.160 5 132378377 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1057517306
rs1057517306
SLC22A5
1 1.000 0.160 5 132393678 frameshift variant -/C delins 0.700 1.000 1 2005 2005
dbSNP: rs1057518297
rs1057518297
SLC22A5
1 1.000 0.160 5 132390889 stop gained C/T snv 0.700 0
dbSNP: rs1057519051
rs1057519051
SLC22A5
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs114269482
rs114269482
SLC22A5
1 1.000 0.160 5 132385370 missense variant C/T snv 9.1E-05 1.8E-04 0.700 1.000 8 2005 2017
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370023 missense variant C/G snv 1.2E-04 4.9E-05 0.800 1.000 5 2006 2014
dbSNP: rs1157198543
rs1157198543
SLC22A5
1 1.000 0.160 5 132393745 missense variant T/C snv 7.0E-06 0.700 1.000 18 1999 2017
dbSNP: rs1178584184
rs1178584184
SLC22A5
1 1.000 0.160 5 132378412 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 5 2010 2017
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121908886
rs121908886
SLC22A5
1 1.000 0.160 5 132387044 stop gained C/T snv 4.0E-05 4.9E-05 0.700 1.000 8 1999 2017
dbSNP: rs121908887
rs121908887
SLC22A5
1 1.000 0.160 5 132390838 stop gained -/A delins 0.700 1.000 2 1999 2002
dbSNP: rs121908888
rs121908888
SLC22A5
1 1.000 0.160 5 132384281 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 18 1999 2017
dbSNP: rs121908889
rs121908889
SLC22A5
1 1.000 0.160 5 132384155 missense variant G/A snv 4.4E-05 2.8E-05 0.800 1.000 21 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: rs121908891
rs121908891
SLC22A5
1 1.000 0.160 5 132390833 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 18 1999 2017
dbSNP: rs121908892
rs121908892
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369975 start lost G/A;T snv 0.700 1.000 2 2005 2006
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: rs1253026669
rs1253026669
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370224 stop gained C/G;T snv 0.700 0