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: rs3783613
rs3783613
VCAM1
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs3191333
rs3191333
KLF10
3 0.882 0.080 8 102649991 3 prime UTR variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs980112
rs980112
KLF10
3 0.882 0.080 8 102653285 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1669539
rs1669539 		2 1.000 0.080 2 105998818 intergenic variant T/C snv 7.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs2236599
rs2236599
KLF4
3 0.882 0.080 9 107487224 non coding transcript exon variant C/T snv 0.18 0.15 0.010 1.000 1 2019 2019
dbSNP: rs146893001
rs146893001
PTPN3
1 1.000 0.080 9 109419337 intron variant T/C snv 3.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs4025935
rs4025935
GSTM1 ; GSTM2
1 1.000 0.080 1 109686818 intron variant GT/- delins 0.010 1.000 1 2017 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: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
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: rs3024719
rs3024719
PROZ
2 0.925 0.080 13 113159911 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
PROZ
3 0.925 0.080 13 113164394 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024735
rs3024735
PROZ ; PCID2
2 0.925 0.080 13 113165199 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1318772
rs1318772
MCC
2 1.000 0.080 5 113387870 intron variant A/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs7952106
rs7952106 		2 1.000 0.080 11 113553836 regulatory region variant G/T snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2020 2020
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 12 1998 2019
dbSNP: rs3115229
rs3115229 		1 1.000 0.080 4 122088578 upstream gene variant T/C snv 9.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs553767245
rs553767245
EDN1
1 1.000 0.080 6 12292355 missense variant G/A snv 8.0E-06 3.5E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs10901080
rs10901080
ASS1
1 1.000 0.080 9 130483269 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10793902
rs10793902
LOC105376294
1 1.000 0.080 9 130502523 downstream gene variant C/T snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs7203560
rs7203560
NPRL3
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.710 1.000 1 2013 2013