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: rs113678689
rs113678689
RBMS1
1 2 160450317 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs113924863
rs113924863 		1 6 32615369 regulatory region variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1163073
rs1163073 		1 10 103263177 intergenic variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs116438126
rs116438126
HLA-B
1 6 31348683 intron variant C/T snv 9.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs11648858
rs11648858
COX4I1 ; EMC8
1 16 85798686 5 prime UTR variant C/G snv 8.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs11669741
rs11669741 		1 19 58449114 upstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11676298
rs11676298 		1 2 226427015 intergenic variant C/G snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs11695058
rs11695058
SOCS5 ; LINC01118
1 2 46751210 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs11699044
rs11699044
RBM39
1 20 35724791 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs117125309
rs117125309
FUT7 ; C9orf139
1 9 137031531 missense variant G/A snv 1.1E-02 9.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11716375
rs11716375
MB21D2
1 3 192900474 intron variant C/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs1172198
rs1172198 		1 1 205693590 regulatory region variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs117706999
rs117706999
EXPH5
1 11 108536216 intron variant G/A snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs11779535
rs11779535 		1 8 100376055 downstream gene variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11784860
rs11784860
ZNF34
1 8 144788414 upstream gene variant C/T snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs1179037
rs1179037
SURF4
1 9 133371633 intron variant A/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs11838644
rs11838644 		1 13 19822918 upstream gene variant T/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs11853179
rs11853179 		1 15 52537592 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12086988
rs12086988
DAB1 ; OMA1 ; LOC107984960
1 1 58438061 intron variant C/G snv 6.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs12139775
rs12139775 		1 1 198625652 intergenic variant C/T snv 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs12155080
rs12155080
TNPO3
1 7 129018685 intron variant G/C snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs1217817
rs1217817
LOC105379028
1 5 72093924 intron variant G/A snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs12217591
rs12217591
SLC25A16
1 10 68491530 intron variant G/A snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs12459634
rs12459634
KMT2B ; IGFLR1
2 19 35739273 3 prime UTR variant T/C snv 0.13 0.11 0.700 1.000 1 2012 2012
dbSNP: rs12459781
rs12459781
APBA3 ; MRPL54 ; LOC105372248
1 19 3762121 upstream gene variant T/C;G snv 0.700 1.000 1 2012 2012