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: rs2338796
rs2338796
FBXL20
1 17 39399374 intron variant A/G snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs3805382
rs3805382
NMU
1 4 55605384 intron variant A/G snv 0.36 0.29 0.700 1.000 1 2018 2018
dbSNP: rs7670121
rs7670121
NR3C2
1 4 148207444 intron variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs838142
rs838142
FUT1 ; IZUMO1
1 19 48748894 3 prime UTR variant A/G snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs1124694
rs1124694
LINC02752
1 11 11077129 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
dbSNP: rs185291443
rs185291443 		1 2 226120788 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs13394343
rs13394343 		1 2 85527219 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10995311
rs10995311
ADO
3 10 62805174 missense variant C/G snv 0.35 0.31 0.700 1.000 1 2018 2018
dbSNP: rs11162351
rs11162351
AK5
1 1 77479047 intron variant C/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs28601761
rs28601761 		13 1.000 0.040 8 125487789 intron variant C/G snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs10157710
rs10157710 		1 1 47496019 downstream gene variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs112607182
rs112607182 		2 3 170309619 downstream gene variant C/T snv 5.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs12727980
rs12727980
LINC00862
1 1 200289967 intron variant C/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs1276720
rs1276720
CUBN
1 10 16929427 intron variant C/T snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs144994089
rs144994089
AQP7
1 9 33385158 missense variant C/T snv 7.0E-04 8.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs183131780
rs183131780
LOC105373914 ; LOC107985992
1 2 225820170 intergenic variant C/T snv 1.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs189107782
rs189107782
FRG1-DT
1 4 189807855 intron variant C/T snv 1.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs2470893
rs2470893
CYP1A1
8 0.882 0.160 15 74727108 upstream gene variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs2472297
rs2472297 		9 0.882 0.160 15 74735539 intergenic variant C/T snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs2601006
rs2601006
CCT2 ; MIR3913-1
1 12 69585737 5 prime UTR variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs35311980
rs35311980 		1 2 228295484 intergenic variant C/T snv 4.9E-05 0.700 1.000 1 2019 2019
dbSNP: rs6768627
rs6768627
MYL3
1 3 46853886 intron variant C/T snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs141640975
rs141640975
CUBN
1 10 16950012 missense variant G/A snv 1.7E-03 1.5E-03 0.700 1.000 2 2018 2019
dbSNP: rs12032996
rs12032996 		1 1 33454985 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018