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: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs876658932
rs876658932
CDH1
7 0.807 0.400 16 68801726 stop gained C/G;T snv 0.700 0
dbSNP: rs876660943
rs876660943
MSH6 ; FBXO11
5 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
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: 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
dbSNP: rs11841589
rs11841589 		1 1.000 0.080 13 73240754 intergenic variant G/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs12184995
rs12184995
LINC02331 ; LOC105370504
1 1.000 0.080 14 53759970 intron variant A/G snv 0.83 0.700 1.000 1 2018 2018
dbSNP: rs13328298
rs13328298
LINC02523 ; LOC105377986
1 1.000 0.080 6 125695434 intron variant G/A;C snv 0.700 1.000 1 2016 2016
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
dbSNP: rs145505949
rs145505949
LINC02451
1 1.000 0.080 12 42656220 intron variant C/T snv 9.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs148261157
rs148261157 		1 1.000 0.080 2 60670444 intergenic variant G/A snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs1677893
rs1677893
NAV3
1 1.000 0.080 12 77944606 intron variant A/T snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs1679014
rs1679014 		1 1.000 0.080 9 22207038 intron variant T/A;C snv 0.700 1.000 1 2018 2018