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: rs2274407
rs2274407
ABCC4
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs3731217
rs3731217
CDKN2A
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3794845
rs3794845
MBP
3 0.882 0.120 18 77002561 intron variant G/C snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs387906517
rs387906517
ABL1
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs408626
rs408626
DHFR ; MSH3
2 0.925 0.120 5 80655314 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs442767
rs442767
DHFR ; MSH3
2 0.925 0.120 5 80655677 intron variant G/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2017 2017
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs6479778
rs6479778
ARID5B
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs766639320
rs766639320
CLTA
4 0.851 0.240 9 36211617 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs78380171
rs78380171
LOC101927518
2 0.925 0.120 3 86720838 intergenic variant A/G snv 6.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2007 2012
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2003 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2015
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 14 2001 2019
dbSNP: rs540476365
rs540476365
SETD2
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014