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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3024496
rs3024496
IL10
6 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2007 2007
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2015 2015
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2015 2018
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1650697
rs1650697
DHFR ; MSH3
3 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2016 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs771656368
rs771656368
KRIT1
3 0.925 0.200 7 92241059 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs769255883
rs769255883
XPA
2 1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs9527
rs9527
BORCS7 ; BORCS7-ASMT
2 10 102863821 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2012 2016
dbSNP: rs11191439
rs11191439
AS3MT ; BORCS7-ASMT
6 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs11191979
rs11191979
GSTO1
1 10 104265109 intron variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs1133400
rs1133400
INPP5A
4 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 0.010 1.000 1 2015 2015
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs157077
rs157077
GSTO2
3 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 0.010 1.000 1 2018 2018