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: 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: 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: 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: rs1057519051
rs1057519051
SLC22A5
3 0.882 0.200 5 132390825 stop gained T/G snv 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: rs151231558
rs151231558
SLC22A5
1 1.000 0.160 5 132378408 missense variant G/A;T snv 1.2E-05; 5.6E-05 0.800 1.000 25 1990 2019
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: 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: rs121908890
rs121908890
SLC22A5
1 1.000 0.160 5 132384154 missense variant C/T snv 4.0E-06 0.800 1.000 22 1999 2017
dbSNP: rs72552732
rs72552732
SLC22A5
1 1.000 0.160 5 132392484 missense variant C/T snv 1.2E-05 4.2E-05 0.800 1.000 22 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: rs121908889
rs121908889
SLC22A5
1 1.000 0.160 5 132384155 missense variant G/A snv 4.4E-05 2.8E-05 0.800 1.000 21 1999 2017
dbSNP: rs267607054
rs267607054
SLC22A5
1 1.000 0.160 5 132390832 missense variant C/T snv 1.2E-04 2.1E-05 0.800 1.000 21 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: rs386134221
rs386134221
SLC22A5
1 1.000 0.160 5 132392568 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.800 1.000 20 1999 2017
dbSNP: rs144547521
rs144547521
SLC22A5
1 1.000 0.160 5 132390830 missense variant C/T snv 8.0E-05 6.3E-05 0.800 1.000 19 1999 2017
dbSNP: rs185551386
rs185551386
SLC22A5
1 1.000 0.160 5 132385355 missense variant G/A snv 6.0E-05 3.5E-05 0.800 1.000 19 1999 2017
dbSNP: rs201082652
rs201082652
SLC22A5 ; MIR3936HG
1 1.000 0.160 5 132370336 missense variant G/A;T snv 3.8E-04 0.800 1.000 19 1999 2017
dbSNP: rs386134210
rs386134210
SLC22A5
1 1.000 0.160 5 132387045 missense variant G/A;C snv 4.0E-06 0.800 1.000 19 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: 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: 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: rs121908891
rs121908891
SLC22A5
1 1.000 0.160 5 132390833 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 18 1999 2017
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