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: rs904520404
rs904520404
DCDC2
2 0.925 0.080 6 24302010 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs10783124
rs10783124 		1 1.000 0.080 1 99937719 intergenic variant A/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs10906850
rs10906850
LOC105376434
2 1.000 0.080 10 15183055 regulatory region variant T/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs112407915
rs112407915 		1 1.000 0.080 3 5505762 intergenic variant T/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs114425659
rs114425659 		1 1.000 0.080 4 117920116 intergenic variant G/A snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1145077
rs1145077
GATM
2 1.000 0.080 15 45391597 intron variant G/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs115007604
rs115007604
LINC02284
1 1.000 0.080 14 56358353 intron variant G/A snv 6.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs115747230
rs115747230 		1 1.000 0.080 9 76994030 downstream gene variant T/C snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11645800
rs11645800 		1 1.000 0.080 16 62966386 intergenic variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs116510623
rs116510623 		1 1.000 0.080 11 24209937 intergenic variant A/G snv 2.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs117329947
rs117329947
C12orf75 ; LOC105369957
1 1.000 0.080 12 105391125 intron variant A/C snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs12032578
rs12032578
LINC00624
1 1.000 0.080 1 147339048 intron variant T/C snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12207180
rs12207180
SLC22A2
2 1.000 0.080 6 160212075 intron variant T/A;G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs12513649
rs12513649 		6 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12963285
rs12963285 		1 1.000 0.080 18 57097183 intergenic variant T/C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs13230625
rs13230625 		3 1.000 0.080 7 1246608 regulatory region variant G/A snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs1362800
rs1362800
C9 ; DAB2
2 1.000 0.080 5 39378013 intron variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs138572244
rs138572244
C22orf31
1 1.000 0.080 22 29065297 upstream gene variant G/A snv 6.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs138873021
rs138873021
ADCY8
1 1.000 0.080 8 130951170 intron variant AGA/- delins 0.68 0.700 1.000 1 2019 2019
dbSNP: rs139401390
rs139401390 		5 0.851 0.120 10 88643382 regulatory region variant A/G snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs144210385
rs144210385
LUC7L3
1 1.000 0.080 17 50748155 intron variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs146639727
rs146639727
RPN1
1 1.000 0.080 3 128669172 intron variant G/C snv 1.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs147084429
rs147084429
LINC02188
1 1.000 0.080 16 86727784 intron variant C/T snv 1.4E-02 0.700 1.000 1 2019 2019