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: rs2067087
rs2067087
HOXA13 ; HOTTIP
6 1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2681492
rs2681492
ATP2B1
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs2969070
rs2969070 		3 7 2472910 downstream gene variant G/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs3753581
rs3753581
NPPB
3 1 11860132 upstream gene variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.700 1.000 2 2016 2018
dbSNP: rs62524579
rs62524579 		4 8 142979538 downstream gene variant G/A;C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs6969780
rs6969780
HOXA3 ; HOXA-AS2
4 7 27119517 splice region variant G/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs7137828
rs7137828
ATXN2
15 0.763 0.200 12 111494996 intron variant C/A;T snv 0.700 1.000 2 2017 2018
dbSNP: rs75746498
rs75746498
BORCS8-MEF2B ; MEF2B
2 19 19149877 intron variant G/A;C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs891511
rs891511
NOS3
4 7 151007755 intron variant G/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs10051330
rs10051330
LINC02227
2 5 158392616 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10059884
rs10059884 		5 5 32832368 regulatory region variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10060615
rs10060615
SLC22A5
1 5 132373185 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10260816
rs10260816
LOC102723446
2 7 45970501 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1027989
rs1027989
LYN
3 8 55901862 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10628234
rs10628234 		2 15 74918801 downstream gene variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs10747570
rs10747570
COX14
2 12 50116154 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10751962
rs10751962 		1 10 4130519 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10864859
rs10864859 		1 2 120682642 downstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11014267
rs11014267
CACNB2
2 10 18448045 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11021221
rs11021221 		4 11 95575690 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs11168244
rs11168244
HDAC7
2 12 47809158 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs112640876
rs112640876
LSP1
3 11 1873813 intron variant A/G;T snv 0.700 1.000 1 2018 2018