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: rs1303000329
rs1303000329
DLC1
4 0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1563593163
rs1563593163
DLC1
2 0.925 0.080 8 13099960 stop gained G/A snv 0.700 0
dbSNP: rs1565818580
rs1565818580
ITGB1
2 0.925 0.080 10 32908395 frameshift variant -/T delins 0.700 0
dbSNP: rs786204030
rs786204030
MTHFR
3 0.882 0.080 1 11791276 stop gained C/T snv 0.700 0
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.020 0.500 2 2015 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 1999 2004
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013
dbSNP: rs12121543
rs12121543
MTHFR
4 0.851 0.240 1 11794614 intron variant C/A snv 0.21 0.010 < 0.001 1 2012 2012
dbSNP: rs13908
rs13908
FOLR2
1 1.000 0.080 11 72218687 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 < 0.001 1 2012 2012
dbSNP: rs17847972
rs17847972
SLC2A3
1 1.000 0.080 12 7924406 splice region variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1888530
rs1888530
SLC19A1
1 1.000 0.080 21 45516509 intron variant C/T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2070424
rs2070424
SOD1
4 0.851 0.200 21 31667007 non coding transcript exon variant A/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs2229682
rs2229682
SLC2A1
1 1.000 0.080 1 42929964 synonymous variant C/G;T snv 4.0E-06; 0.18 0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2015 2015
dbSNP: rs3740393
rs3740393
AS3MT ; BORCS7-ASMT
10 0.776 0.280 10 102876898 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs374628070
rs374628070
FOLR3
2 1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04 0.010 < 0.001 1 2017 2017
dbSNP: rs3788200
rs3788200
SLC19A1
1 1.000 0.080 21 45536657 intron variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs4816405
rs4816405
SOD1 ; LOC102724449
1 1.000 0.080 21 31660688 non coding transcript exon variant C/G snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs4846049
rs4846049
MTHFR ; C1orf167
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs5746105
rs5746105
SOD2
1 1.000 0.080 6 159691606 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs710218
rs710218
SLC2A1-AS1
5 0.882 0.280 1 42961547 intron variant T/A snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs745579533
rs745579533
SP1
2 0.925 0.080 12 53382768 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs7560488
rs7560488 		4 0.851 0.160 2 25345952 upstream gene variant T/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs7925545
rs7925545
FOLR3
1 1.000 0.080 11 72134495 intron variant A/G snv 8.4E-02 0.010 1.000 1 2010 2010