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: 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: 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: 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: rs1870050
rs1870050
GLDN
5 0.827 0.160 15 51344354 intron variant A/C snv 6.0E-02 0.020 1.000 2 2007 2007
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: rs727479
rs727479
CYP19A1 ; MIR4713 ; MIR4713HG
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.020 1.000 2 2009 2016
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: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009
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: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2011 2017
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs10431923
rs10431923
CDH1
2 0.925 0.120 16 68805360 intron variant G/T snv 0.44 0.010 1.000 1 2018 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: rs10502289
rs10502289
ENOSF1
2 0.925 0.080 18 676789 intron variant A/T snv 0.15 0.010 1.000 1 2009 2009
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: rs1065779
rs1065779
CYP19A1 ; MIR4713HG
3 0.882 0.120 15 51212614 intron variant A/C;T snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs10733710
rs10733710
TGFBR1
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016
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: rs11196445
rs11196445
CASP7
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
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: 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: rs117039649
rs117039649
MDM2
4 0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02 0.010 1.000 1 2018 2018