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: 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: 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: rs267607053
rs267607053
SLC22A5
1 1.000 0.160 5 132392489 missense variant GC/AT mnv 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
dbSNP: rs68018207
rs68018207
SLC22A5
1 1.000 0.160 5 132389020 stop lost T/C snv 0.800 1.000 18 1999 2017
dbSNP: rs72552724
rs72552724
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370055 missense variant G/T snv 0.700 1.000 18 1999 2017
dbSNP: rs72552728
rs72552728
SLC22A5
1 1.000 0.160 5 132385400 missense variant G/T snv 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: rs72552730
rs72552730
SLC22A5
1 1.000 0.160 5 132387102 missense variant C/A;G snv 0.700 1.000 18 1999 2017
dbSNP: rs72552735
rs72552735
SLC22A5
1 1.000 0.160 5 132392598 missense variant C/T snv 0.800 1.000 18 1999 2017
dbSNP: rs377767444
rs377767444
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370034 inframe deletion TTC/- delins 0.700 1.000 7 1990 2017
dbSNP: rs377767449
rs377767449
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370222 frameshift variant -/GGCTCGCCACC delins 0.700 1.000 6 2002 2017
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: rs386134209
rs386134209
SLC22A5
2 1.000 0.160 5 132387039 frameshift variant C/-;CC delins 7.0E-06 0.700 1.000 2 2002 2009
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: 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: rs397514669
rs397514669
UBIAD1
3 0.882 0.280 1 11285644 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs761090705
rs761090705
SLC22A5
1 1.000 0.160 5 132393769 frameshift variant C/-;CC delins 0.700 1.000 1 2005 2005