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: rs571866661
rs571866661 		1 1.000 0.080 11 77315297 downstream gene variant TTTTTTTTTTTTTTTTT/-;T;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT delins 8.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs35286446
rs35286446
LINC00824
1 1.000 0.080 8 128433618 intron variant TATATA/-;TATA;TATATATA;TATATATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.010 1.000 1 2008 2008
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.040 1.000 4 2014 2018
dbSNP: rs117280150
rs117280150 		1 1.000 0.080 8 14014030 intergenic variant T/G snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs121918497
rs121918497
FGFR2
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs17761446
rs17761446
CDKN2B-AS1
1 1.000 0.080 9 22118103 non coding transcript exon variant T/G snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs8176199
rs8176199
BRCA1
1 1.000 0.080 17 43078507 intron variant T/G snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.700 1.000 2 2000 2004
dbSNP: rs3218896
rs3218896
IL1R2
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2008 2009
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2012 2013
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 2 2000 2004
dbSNP: rs937213
rs937213
EIF2AK4
3 1.000 0.080 15 40029923 intron variant T/C snv 0.31 0.700 1.000 2 2016 2018
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs10512263
rs10512263
TGFBR1
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs113998067
rs113998067 		1 1.000 0.080 1 37607755 downstream gene variant T/C snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs1156807933
rs1156807933
MAX ; LOC100506321
3 0.925 0.080 14 65093799 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs12934561
rs12934561
IL32
3 0.882 0.080 16 3068864 intron variant T/C snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs142459060
rs142459060
EXT1
1 1.000 0.080 8 117816659 intron variant T/C snv 2.3E-02 0.700 1.000 1 2018 2018