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: rs10157710
rs10157710 		1 1 47496019 downstream gene variant C/T snv 0.78 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: rs11264327
rs11264327 		1 1 155122631 downstream gene variant G/A;C;T snv 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: 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: rs13394343
rs13394343 		1 2 85527219 intergenic variant C/A;T snv 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
dbSNP: rs34823645
rs34823645
C2orf83
1 2 227647210 intron variant T/C snv 3.9E-04 0.700 1.000 1 2019 2019
dbSNP: rs35311980
rs35311980 		1 2 228295484 intergenic variant C/T snv 4.9E-05 0.700 1.000 1 2019 2019
dbSNP: rs35483183
rs35483183
COL4A4
1 2 227011971 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs35924503
rs35924503 		1 2 228266570 intergenic variant T/C snv 1.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs4665972
rs4665972
SNX17
9 2 27375230 intron variant T/C snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs6712846
rs6712846 		1 2 207024356 intergenic variant G/A snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs6750228
rs6750228
NRXN1 ; LOC730100
1 2 51084986 intron variant T/A snv 6.9E-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
dbSNP: rs6768627
rs6768627
MYL3
1 3 46853886 intron variant C/T snv 0.13 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: rs3805382
rs3805382
NMU
1 4 55605384 intron variant A/G snv 0.36 0.29 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: rs6535594
rs6535594
NR3C2
2 4 148211605 intron variant G/A snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs7654754
rs7654754
SHROOM3
1 4 76488642 intron variant G/A snv 0.43 0.700 1.000 1 2018 2018