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: rs121908887
rs121908887
SLC22A5
1 1.000 0.160 5 132390838 stop gained -/A delins 0.700 1.000 2 1999 2002
dbSNP: rs386134225
rs386134225
SLC22A5
1 1.000 0.160 5 132393780 frameshift variant -/ACAC delins 0.700 1.000 1 2007 2007
dbSNP: rs1057517306
rs1057517306
SLC22A5
1 1.000 0.160 5 132393678 frameshift variant -/C delins 0.700 1.000 1 2005 2005
dbSNP: rs878853248
rs878853248
SLC22A5
1 1.000 0.160 5 132392527 frameshift variant -/C delins 0.700 0
dbSNP: rs1554085973
rs1554085973
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370222 frameshift variant -/CCGGCTCGCCACCA delins 0.700 0
dbSNP: rs1057516797
rs1057516797
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370127 frameshift variant -/GACGCCG delins 0.700 0
dbSNP: rs377767449
rs377767449
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370222 frameshift variant -/GGCTCGCCACC delins 0.700 1.000 6 2002 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: rs1554087461
rs1554087461
SLC22A5
1 1.000 0.160 5 132385327 frameshift variant -/TATGGCCATCAGGTTGGAG delins 0.700 0
dbSNP: rs1554088578
rs1554088578
SLC22A5
1 1.000 0.160 5 132393779 frameshift variant A/- del 0.700 1.000 1 2005 2005
dbSNP: rs1554087719
rs1554087719
SLC22A5
1 1.000 0.160 5 132387081 frameshift variant A/- del 0.700 0
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: 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: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
3 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.800 1.000 24 1999 2017
dbSNP: rs386134218
rs386134218
SLC22A5
1 1.000 0.160 5 132392505 missense variant A/G snv 7.0E-06 0.800 1.000 21 1999 2017
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: rs145068530
rs145068530
SLC22A5
1 1.000 0.160 5 132384178 missense variant A/G snv 7.6E-05 2.7E-04 0.700 1.000 18 1999 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: 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: rs1057516402
rs1057516402
SLC22A5
1 1.000 0.160 5 132394183 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554087913
rs1554087913
SLC22A5
1 1.000 0.160 5 132388919 splice acceptor variant A/G snv 0.700 0
dbSNP: rs774971089
rs774971089
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369973 start lost A/G;T snv 0.700 0
dbSNP: rs878853249
rs878853249
SLC22A5
1 1.000 0.160 5 132385334 stop gained A/T snv 0.700 0
dbSNP: rs1022453298
rs1022453298
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370023 frameshift variant C/- delins 0.700 0