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: rs1471633
rs1471633 		3 0.925 0.120 1 145711327 upstream gene variant T/G snv 0.43 0.800 1.000 3 2009 2019
dbSNP: rs1967017
rs1967017 		5 0.882 0.160 1 145711421 upstream gene variant A/G snv 0.43 0.800 1.000 3 2009 2015
dbSNP: rs10910845
rs10910845 		3 0.925 0.120 1 145711946 upstream gene variant T/G snv 0.44 0.800 1.000 2 2009 2019
dbSNP: rs11264341
rs11264341
TRIM46
4 0.925 0.120 1 155179017 intron variant C/T snv 0.40 0.700 1.000 2 2013 2019
dbSNP: rs12123298
rs12123298
RNF115
3 0.925 0.120 1 145744615 3 prime UTR variant G/A;C snv 0.27 0.700 1.000 2 2018 2019
dbSNP: rs1797052
rs1797052
PDZK1
2 1 145707383 5 prime UTR variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.700 1.000 2 2018 2019
dbSNP: rs74896528
rs74896528
SESN2
1 1 28271776 missense variant C/T snv 2.2E-03 8.6E-04 0.700 1.000 2 2019 2019
dbSNP: rs10803394
rs10803394
DNAJC16 ; AGMAT
1 1 15582985 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10890263
rs10890263
PTPRF
1 1 43595361 intron variant T/C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10908521
rs10908521
INSRR ; NTRK1
1 1 156843858 intron variant T/C snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs11204682
rs11204682
ENSA
4 1 150623061 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11204701
rs11204701
GOLPH3L
1 1 150689703 intron variant A/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs12037861
rs12037861
HLX-AS1
1 1 220864835 intron variant A/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs12129861
rs12129861
PDZK1
3 0.925 0.120 1 145709377 upstream gene variant C/T snv 0.43 0.800 1.000 1 2009 2009
dbSNP: rs12134456
rs12134456
GON4L
2 1 155752715 intron variant C/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs12135191
rs12135191 		2 1 236307434 regulatory region variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs139428292
rs139428292
RBM8A ; LIX1L-AS1
2 1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs141990161
rs141990161 		1 1 119400902 intergenic variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2070803
rs2070803
TRIM46
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs2356864
rs2356864 		1 1 50374068 intergenic variant G/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2480712
rs2480712 		1 1 2225560 upstream gene variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2760215
rs2760215 		1 1 163706152 regulatory region variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs2765545
rs2765545
CCDC18
1 1 93211712 intron variant G/A snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs2970581
rs2970581 		1 1 211910170 regulatory region variant G/A snv 2.7E-02 0.700 1.000 1 2019 2019