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: rs118203945
rs118203945
MTOR ; UBIAD1
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
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: 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: rs1554085861
rs1554085861
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369882 start lost GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- del 0.700 1.000 3 1999 2017
dbSNP: rs774971089
rs774971089
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369973 start lost A/G;T 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: 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: 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: rs1554085892
rs1554085892
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132369985 frameshift variant G/- del 0.700 0
dbSNP: rs139203363
rs139203363
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370006 missense variant G/A snv 7.1E-04 6.5E-04 0.700 1.000 18 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: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370023 missense variant C/G snv 1.2E-04 4.9E-05 0.800 1.000 5 2006 2014
dbSNP: rs1022453298
rs1022453298
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370023 frameshift variant C/- delins 0.700 0
dbSNP: rs72552723
rs72552723
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370028 missense variant G/A;C snv 4.0E-06 0.700 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: 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: 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: rs72552724
rs72552724
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370055 missense variant G/T snv 0.700 1.000 18 1999 2017
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: rs199689597
rs199689597
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370103 missense variant C/A;G;T snv 4.1E-06; 2.9E-05 0.700 0
dbSNP: rs762986044
rs762986044
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370106 frameshift variant C/- delins 0.700 0
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370108 missense variant C/G;T snv 4.5E-04 0.800 1.000 24 1999 2017
dbSNP: rs386134227
rs386134227
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370120 frameshift variant T/- del 0.700 0
dbSNP: rs1057516797
rs1057516797
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370127 frameshift variant -/GACGCCG delins 0.700 0
dbSNP: rs1554085942
rs1554085942
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370157 stop gained G/A snv 0.700 0