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: rs771176824
rs771176824
CUX1
1 1.000 0.120 7 101916181 missense variant C/A;T snv 0.010 1.000 1 1994 1994
dbSNP: rs142863665
rs142863665
CUX1
1 1.000 0.120 7 102111708 missense variant G/A snv 3.2E-05 1.3E-04 0.010 1.000 1 1994 1994
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2015 2016
dbSNP: rs12765878
rs12765878
STN1
2 0.925 0.160 10 103909864 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11191865
rs11191865
STN1
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs59336
rs59336
TBX3
10 0.776 0.160 12 114678547 intron variant T/A;G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs1665650
rs1665650
HSPA12A
12 0.752 0.160 10 116727589 intron variant T/C snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs10088262
rs10088262
LOC105375739
2 0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs28903090
rs28903090
RAD50
2 0.925 0.120 5 132587981 missense variant G/T snv 1.2E-03 1.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs5744455
rs5744455
CD14 ; TMCO6
5 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs4725443
rs4725443
KMT2C
2 0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs6943984
rs6943984
KMT2C
2 0.925 0.120 7 152201919 intron variant G/A snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs202096899
rs202096899
PSIP1
1 1.000 0.120 9 15489993 missense variant C/G;T snv 4.5E-05; 4.5E-06 5.6E-05 0.010 1.000 1 1994 1994
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 2013 2013
dbSNP: rs1378286181
rs1378286181
TCF3
1 1.000 0.120 19 1632076 missense variant C/G snv 7.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs748148861
rs748148861
CCR6
2 0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs865789884
rs865789884
TNFRSF10D
2 0.925 0.120 8 23145778 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016