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: rs1372330
rs1372330
ASTN2
1 1.000 0.080 9 116757309 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1426107
rs1426107 		1 1.000 0.080 4 14294676 regulatory region variant C/G;T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs17053011
rs17053011
SGCD
1 1.000 0.080 5 155934106 intron variant G/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs17082301
rs17082301
SCFD2
1 1.000 0.080 4 53026989 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs17201864
rs17201864
HAPLN3
1 1.000 0.080 15 88877743 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1801123
rs1801123
IRS1
3 0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20 0.010 1.000 1 2017 2017
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2163746
rs2163746
SGCD
1 1.000 0.080 5 155918211 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs2327990
rs2327990 		1 1.000 0.080 20 16208618 intron variant T/C snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs2366964
rs2366964
FHIT
1 1.000 0.080 3 59944946 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2936519
rs2936519 		1 1.000 0.080 8 6781719 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs368295543
rs368295543
CD38
1 1.000 0.080 4 15778625 missense variant A/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs3729740
rs3729740
LIFR
3 0.882 0.080 5 38496535 splice acceptor variant C/T snv 2.2E-02 8.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs3757441
rs3757441
EZH2
12 0.752 0.200 7 148827660 intron variant C/T snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs3815652
rs3815652
BBS9
3 0.925 0.160 7 33873792 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs3853839
rs3853839
TLR7
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3861289
rs3861289
RIT2
1 1.000 0.080 18 43111710 intron variant C/T snv 9.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2014 2014
dbSNP: rs4239258
rs4239258
POLR2A
1 1.000 0.080 17 7493724 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs4754687
rs4754687 		1 1.000 0.080 11 100559322 intergenic variant A/C snv 0.75 0.700 1.000 1 2019 2019