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: 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: rs10207567
rs10207567
ICA1L
1 2 202850250 intron variant G/A;C snv 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: rs11264327
rs11264327 		1 1 155122631 downstream gene variant G/A;C;T snv 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: rs185291443
rs185291443 		1 2 226120788 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2236295
rs2236295
ADO
2 10 62805132 missense variant G/C;T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs35572189
rs35572189
BAHCC1 ; MIR3186
1 17 81451999 missense variant G/A;C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs4109437
rs4109437
FRG1-DT
1 4 189848068 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4288924
rs4288924 		1 14 68835682 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs55798132
rs55798132
LOC105377785
1 8 2808621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs67339103
rs67339103
LRMDA
2 10 76133928 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs784257
rs784257
LOC105372130
4 1.000 0.080 18 55729968 intron variant T/A;C snv 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: rs35924503
rs35924503 		1 2 228266570 intergenic variant T/C snv 1.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs539606836
rs539606836
CUBN
1 10 16963744 intron variant G/A snv 1.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs34823645
rs34823645
C2orf83
1 2 227647210 intron variant T/C snv 3.9E-04 0.700 1.000 1 2019 2019
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: 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: rs189107782
rs189107782
FRG1-DT
1 4 189807855 intron variant C/T snv 1.5E-03 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: rs17368443
rs17368443
SBF2
1 11 10275289 intron variant G/C snv 5.3E-02 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