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: rs112827279
rs112827279
LOC102724092
2 X 15234130 downstream gene variant C/A snv 4.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs113288656
rs113288656
PTCHD1-AS
2 X 22417389 intron variant T/C snv 2.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs12854631
rs12854631 		2 X 58297412 intergenic variant A/C snv 2.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs137986605
rs137986605 		2 X 134944139 regulatory region variant G/A snv 2.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs139306621
rs139306621
LOC107985670
2 X 78678436 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs139545172
rs139545172 		2 X 19186106 intergenic variant G/A snv 3.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs139618469
rs139618469 		2 X 143165510 intergenic variant T/C snv 1.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs140386998
rs140386998 		2 X 100959983 downstream gene variant C/T snv 3.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs143011308
rs143011308 		2 X 4117086 intergenic variant T/A snv 2.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs143049324
rs143049324
REPS2
2 X 17027288 intron variant A/G snv 4.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs146414513
rs146414513 		2 X 91548679 intergenic variant T/C snv 5.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs146514374
rs146514374 		2 X 7839126 upstream gene variant G/C snv 2.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs147428850
rs147428850 		2 X 79047973 intergenic variant G/A snv 2.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs148215758
rs148215758
PHF8
2 X 54017674 synonymous variant A/C;T snv 2.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs149432766
rs149432766 		2 X 93801889 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs150798856
rs150798856 		2 X 23322339 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs17219051
rs17219051 		2 X 4330060 intergenic variant C/T snv 4.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs181869920
rs181869920 		2 X 79674625 intergenic variant G/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs183056377
rs183056377
KLF8
2 X 56034817 intron variant G/A snv 5.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs191209518
rs191209518
NHSL2
2 X 72109657 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs191792526
rs191792526 		2 X 44070843 intergenic variant G/A snv 4.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs191870197
rs191870197
MIR325HG
2 X 76826573 intron variant C/A snv 3.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs192657641
rs192657641 		2 X 76601629 intergenic variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs4644421
rs4644421 		2 X 77090709 intergenic variant C/A snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs5912268
rs5912268 		2 X 79276916 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015