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: rs72552727
rs72552727
SLC22A5
1 1.000 0.160 5 132378380 stop gained G/A snv 8.0E-06 0.700 1.000 6 1998 2010
dbSNP: rs386134212
rs386134212
SLC22A5
1 1.000 0.160 5 132387065 stop gained C/T snv 1.6E-05 0.700 1.000 4 2005 2014
dbSNP: rs1554085861
rs1554085861
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369882 start lost GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- del 0.700 1.000 3 1999 2017
dbSNP: rs386134195
rs386134195
SLC22A5
1 1.000 0.160 5 132378439 frameshift variant TG/- delins 0.700 1.000 3 2005 2017
dbSNP: rs121908887
rs121908887
SLC22A5
1 1.000 0.160 5 132390838 stop gained -/A delins 0.700 1.000 2 1999 2002
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: rs386134201
rs386134201
SLC22A5
1 1.000 0.160 5 132385326 splice acceptor variant A/C snv 0.700 1.000 2 2013 2017
dbSNP: rs386134224
rs386134224
SLC22A5
1 1.000 0.160 5 132393675 splice acceptor variant G/A snv 0.700 1.000 2 1999 2015
dbSNP: rs72552722
rs72552722
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369984 stop gained C/G snv 8.0E-06 0.700 1.000 2 2002 2006
dbSNP: rs727504159
rs727504159
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370310 missense variant G/A snv 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs1057517306
rs1057517306
SLC22A5
1 1.000 0.160 5 132393678 frameshift variant -/C delins 0.700 1.000 1 2005 2005
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: rs1554088578
rs1554088578
SLC22A5
1 1.000 0.160 5 132393779 frameshift variant A/- del 0.700 1.000 1 2005 2005
dbSNP: rs386134225
rs386134225
SLC22A5
1 1.000 0.160 5 132393780 frameshift variant -/ACAC delins 0.700 1.000 1 2007 2007
dbSNP: rs761090705
rs761090705
SLC22A5
1 1.000 0.160 5 132393769 frameshift variant C/-;CC delins 0.700 1.000 1 2005 2005
dbSNP: rs768272475
rs768272475
SOAT1
2 0.925 0.240 1 179345018 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
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: 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