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: rs377767444
rs377767444
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370034 inframe deletion TTC/- delins 0.700 1.000 7 1990 2017
dbSNP: rs386134215
rs386134215
SLC22A5
1 1.000 0.160 5 132390810 inframe deletion TGC/- delins 0.700 0
dbSNP: rs386134195
rs386134195
SLC22A5
1 1.000 0.160 5 132378439 frameshift variant TG/- delins 0.700 1.000 3 2005 2017
dbSNP: rs1057519051
rs1057519051
SLC22A5
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs1554085885
rs1554085885
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369974 start lost T/G snv 0.700 0
dbSNP: rs748605096
rs748605096
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370340 missense variant T/G snv 4.2E-06 2.1E-05 0.700 0
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: 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: rs68018207
rs68018207
SLC22A5
1 1.000 0.160 5 132389020 stop lost T/C snv 0.800 1.000 18 1999 2017
dbSNP: rs756650860
rs756650860
SLC22A5
1 1.000 0.160 5 132385363 missense variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 18 1999 2017
dbSNP: rs1561566541
rs1561566541
SLC22A5
1 1.000 0.160 5 132378237 splice donor variant T/C snv 0.700 0
dbSNP: rs796052033
rs796052033
SLC22A5
1 1.000 0.160 5 132384263 missense variant T/A;G snv 0.700 0
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: rs72552729
rs72552729
SLC22A5
1 1.000 0.160 5 132387047 missense variant T/A;C snv 0.700 1.000 18 1999 2017
dbSNP: rs61731073
rs61731073
SLC22A5
1 1.000 0.160 5 132390709 missense variant T/A snv 4.0E-06 1.4E-05 0.700 1.000 18 1999 2017
dbSNP: rs775097754
rs775097754
SLC22A5
1 1.000 0.160 5 132378362 intron variant T/A snv 4.0E-05 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs386134204
rs386134204
SLC22A5
1 1.000 0.160 5 132385481 frameshift variant T/- del 8.0E-06 7.0E-06 0.700 1.000 3 2002 2014
dbSNP: rs1554087491
rs1554087491
SLC22A5
1 1.000 0.160 5 132385429 frameshift variant T/- delins 0.700 0
dbSNP: rs386134227
rs386134227
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370120 frameshift variant T/- del 0.700 0
dbSNP: rs775502377
rs775502377
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370043 frameshift variant T/- del 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1554085861
rs1554085861
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369882 start lost GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- del 0.700 1.000 3 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: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370220 missense variant G/T snv 2.7E-04 3.5E-05 0.800 1.000 23 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: rs386134211
rs386134211
SLC22A5
1 1.000 0.160 5 132387049 missense variant G/T snv 0.700 1.000 18 1999 2017