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: rs11263763
rs11263763
HNF1B
6 0.882 0.200 17 37743574 intron variant A/G snv 0.43 0.800 1.000 2 2011 2016
dbSNP: rs11651052
rs11651052
HNF1B
7 0.851 0.200 17 37742390 intron variant G/A snv 0.50 0.800 1.000 2 2011 2016
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.730 1.000 3 2011 2018
dbSNP: rs1740828
rs1740828 		2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.710 1.000 2 2016 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2018
dbSNP: rs7501939
rs7501939
HNF1B
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.710 1.000 2 2011 2012
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2009 2009
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.710 1.000 1 2011 2011
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: rs4733613
rs4733613 		1 1.000 0.080 8 128587032 intergenic variant C/G snv 0.86 0.700 1.000 2 2016 2018
dbSNP: rs63750664
rs63750664
MSH6
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 2 2000 2004
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: rs10835920
rs10835920 		1 1.000 0.080 11 32468118 intergenic variant C/T snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs10850382
rs10850382
LOC107984437
1 1.000 0.080 12 114776743 downstream gene variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs10908278
rs10908278
HNF1B
2 0.925 0.160 17 37739961 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11263761
rs11263761
HNF1B
2 1.000 0.080 17 37737784 intron variant A/G snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1129506
rs1129506
EVI2A ; NF1
1 1.000 0.080 17 31319014 missense variant G/A;C snv 0.59; 6.0E-05 0.700 1.000 1 2018 2018
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: rs11583244
rs11583244 		1 1.000 0.080 1 225764772 regulatory region variant C/T snv 0.35 0.700 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: rs11657964
rs11657964
HNF1B
1 1.000 0.080 17 37740776 intron variant G/A snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs11658063
rs11658063
HNF1B
5 0.851 0.120 17 37743881 intron variant G/C;T snv 0.700 1.000 1 2011 2011
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: rs117610694
rs117610694
FCHSD2
1 1.000 0.080 11 73070209 intron variant C/T snv 9.6E-03 0.700 1.000 1 2018 2018