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: 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: rs1801239
rs1801239
CUBN
8 0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06 0.800 1.000 2 2011 2019
dbSNP: rs45551835
rs45551835
CUBN
3 1.000 0.080 10 16890385 missense variant G/A;T snv 1.3E-02; 4.0E-06 0.700 1.000 2 2018 2019
dbSNP: rs10157710
rs10157710 		1 1 47496019 downstream gene variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs10207567
rs10207567
ICA1L
1 2 202850250 intron variant G/A;C 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: 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: rs1124694
rs1124694
LINC02752
1 11 11077129 intron variant A/G;T snv 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: rs11264327
rs11264327 		1 1 155122631 downstream gene variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1145074
rs1145074
SPATA5L1
1 15 45411626 intron variant T/A;G snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs12032996
rs12032996 		1 1 33454985 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs12727104
rs12727104 		1 1 171454028 intergenic variant G/A snv 8.3E-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: rs13394343
rs13394343 		1 2 85527219 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs144360241
rs144360241
CUBN
1 10 16925418 missense variant T/C snv 5.6E-03 5.3E-03 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: rs146311723
rs146311723
USP3
2 1.000 0.080 15 63512308 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs16943246
rs16943246 		1 15 45428399 upstream gene variant G/A snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs17158386
rs17158386 		2 7 29765745 regulatory region variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17368443
rs17368443
SBF2
1 11 10275289 intron variant G/C snv 5.3E-02 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: rs185291443
rs185291443 		1 2 226120788 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019