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: rs397514632
rs397514632
POLD1
5 0.827 0.160 19 50406456 missense variant G/A snv 0.800 1.000 6 2013 2015
dbSNP: rs587777627
rs587777627
POLD1
7 0.807 0.080 19 50406444 missense variant T/C snv 0.800 1.000 4 2006 2016
dbSNP: rs10774214
rs10774214
CCND2-AS1
9 0.790 0.080 12 4259186 intron variant T/C snv 0.54 0.700 1.000 4 2013 2019
dbSNP: rs3824999
rs3824999
POLD3
9 0.790 0.080 11 74634505 intron variant T/G snv 0.40 0.700 1.000 4 2012 2019
dbSNP: rs2450115
rs2450115
LOC105375712
9 0.790 0.080 8 116611854 intergenic variant T/C snv 0.19 0.700 1.000 3 2016 2019
dbSNP: rs6469656
rs6469656 		9 0.790 0.080 8 116635549 regulatory region variant G/A;C snv 0.700 1.000 3 2014 2019
dbSNP: rs73376930
rs73376930
GREM1 ; LOC100131315
9 0.790 0.080 15 32720301 intron variant A/G snv 0.25 0.700 1.000 3 2014 2019
dbSNP: rs1035209
rs1035209 		9 0.790 0.080 10 99585609 intergenic variant C/T snv 0.15 0.700 1.000 2 2014 2019
dbSNP: rs10849432
rs10849432
LOC105369625
9 0.790 0.080 12 6276561 intergenic variant C/T snv 0.84 0.700 1.000 2 2014 2016
dbSNP: rs10911251
rs10911251
LAMC1
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019
dbSNP: rs12412391
rs12412391
LINC01475
9 0.790 0.080 10 99529178 intron variant A/G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs12603526
rs12603526
NXN
9 0.790 0.080 17 897353 intron variant T/C snv 2.3E-02 0.700 1.000 2 2014 2016
dbSNP: rs1810502
rs1810502 		9 0.790 0.080 20 50440951 intergenic variant C/T snv 0.49 0.700 1.000 2 2019 2019
dbSNP: rs35360328
rs35360328 		9 0.790 0.080 3 40883471 intergenic variant T/A snv 0.11 0.700 1.000 2 2015 2019
dbSNP: rs4948317
rs4948317
BICC1
9 0.790 0.080 10 58811675 intron variant C/T snv 0.53 0.700 1.000 2 2014 2016
dbSNP: rs6065668
rs6065668 		9 0.790 0.080 20 43904181 regulatory region variant C/T snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs7226855
rs7226855
SMAD7
9 0.790 0.080 18 48927678 intron variant A/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs72647484
rs72647484 		9 0.790 0.080 1 22261235 regulatory region variant T/C snv 6.2E-02 0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120
NOS1
9 0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02 0.700 1.000 2 2015 2019
dbSNP: rs812481
rs812481
LRIG1
9 0.790 0.080 3 66392011 intron variant C/G snv 0.66 0.700 1.000 2 2015 2019
dbSNP: rs847208
rs847208 		9 0.790 0.080 16 86220445 downstream gene variant C/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs10152518
rs10152518 		9 0.790 0.080 15 67884824 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1028166
rs1028166
TENM3 ; TENM3-AS1
9 0.790 0.080 4 181892145 intron variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs10849438
rs10849438 		9 0.790 0.080 12 6302870 intergenic variant T/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs10904849
rs10904849
CUBN
9 0.790 0.080 10 16955267 intron variant G/A;T snv 0.25 0.700 1.000 1 2015 2015