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: rs878853249
rs878853249
SLC22A5
1 1.000 0.160 5 132385334 stop gained A/T snv 0.700 0
dbSNP: rs878853248
rs878853248
SLC22A5
1 1.000 0.160 5 132392527 frameshift variant -/C delins 0.700 0
dbSNP: rs796052033
rs796052033
SLC22A5
1 1.000 0.160 5 132384263 missense variant T/A;G snv 0.700 0
dbSNP: rs781721860
rs781721860
SLC22A5
1 1.000 0.160 5 132384172 missense variant G/A snv 4.4E-05 2.8E-05 0.700 1.000 18 1999 2017
dbSNP: rs781330134
rs781330134
SLC22A5
1 1.000 0.160 5 132390886 frameshift variant -/T delins 1.4E-05 0.700 1.000 1 1999 1999
dbSNP: rs777004046
rs777004046
SLC22A5
1 1.000 0.160 5 132390688 splice acceptor variant A/C;G snv 3.6E-05; 4.0E-06 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: 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: rs774971089
rs774971089
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369973 start lost A/G;T snv 0.700 0
dbSNP: rs774792831
rs774792831
SLC22A5
1 1.000 0.160 5 132387149 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs772578415
rs772578415
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370049 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
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: rs766398620
rs766398620
SLC22A5
1 1.000 0.160 5 132394184 splice acceptor variant G/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs763224132
rs763224132
SLC22A5
1 1.000 0.160 5 132393683 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs762986044
rs762986044
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370106 frameshift variant C/- delins 0.700 0
dbSNP: rs761090705
rs761090705
SLC22A5
1 1.000 0.160 5 132393769 frameshift variant C/-;CC delins 0.700 1.000 1 2005 2005
dbSNP: rs757711838
rs757711838
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370196 missense variant G/C snv 9.9E-06 1.4E-05 0.700 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: 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: 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: rs747592919
rs747592919
SLC22A5
1 1.000 0.160 5 132384146 splice acceptor variant G/C snv 4.0E-06 7.0E-06 0.700 0
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: rs72552735
rs72552735
SLC22A5
1 1.000 0.160 5 132392598 missense variant C/T snv 0.800 1.000 18 1999 2017
dbSNP: rs72552734
rs72552734
SLC22A5
1 1.000 0.160 5 132392519 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 19 1999 2017
dbSNP: rs72552733
rs72552733
SLC22A5
1 1.000 0.160 5 132392501 missense variant G/T snv 4.0E-06 7.0E-06 0.700 1.000 18 1999 2017