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: rs572589
rs572589
LOC107986961
1 1.000 0.040 8 101473534 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs143354638
rs143354638
CD8B2
1 1.000 0.040 2 106508384 3 prime UTR variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs144251347
rs144251347
TMEM245
1 1.000 0.040 9 109119117 intron variant G/A snv 2.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs56343172
rs56343172
PHLDB2
2 0.925 0.160 3 111868398 intron variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs74512480
rs74512480
LOC105378911 ; LINC01357
1 1.000 0.040 1 112873635 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs113887891
rs113887891
LINC01762
1 1.000 0.040 1 116464248 intron variant T/G snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs45495792
rs45495792
RAD23A
1 1.000 0.040 19 12951613 intron variant A/G snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs9372971
rs9372971 		1 1.000 0.040 6 130643292 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs199564443
rs199564443
FOXF2 ; LOC105374880
1 1.000 0.040 6 1388744 upstream gene variant TTTT/- delins 1.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs11352430
rs11352430
MROH6
1 1.000 0.040 8 143571358 intron variant C/- delins 0.16 0.700 1.000 1 2018 2018
dbSNP: rs74997117
rs74997117 		1 1.000 0.040 7 155060018 intergenic variant C/T snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs41314643
rs41314643
NMNAT2
1 1.000 0.040 1 183286773 missense variant T/C snv 1.2E-02 1.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs9675270
rs9675270
RTN4RL1
1 1.000 0.040 17 1964741 intron variant A/T snv 0.91 0.700 1.000 1 2018 2018
dbSNP: rs114431066
rs114431066 		1 1.000 0.040 3 197381461 regulatory region variant C/T snv 1.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs200629715
rs200629715
LOC105370103
1 1.000 0.040 13 20561201 downstream gene variant ACAAAAAA/- delins 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs73165468
rs73165468
IFT88
1 1.000 0.040 13 20680227 intron variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs149104283
rs149104283
SLCO1B3-SLCO1B7
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs202233001
rs202233001 		1 1.000 0.040 20 21754716 upstream gene variant ACA/- del 3.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12082628
rs12082628
CHRM3 ; LOC105373225
1 1.000 0.040 1 239634406 intron variant G/A snv 8.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs142915233
rs142915233
OSBPL3
1 1.000 0.040 7 24803381 intron variant G/A snv 1.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs7768644
rs7768644
MUC22
2 0.925 0.160 6 31034324 intron variant G/A snv 9.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs9262631
rs9262631
HCG22
2 0.925 0.160 6 31056824 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs9263688
rs9263688
PSORS1C1
2 0.925 0.160 6 31124190 intron variant A/G snv 5.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs185386680
rs185386680 		2 0.925 0.040 6 31207153 downstream gene variant A/G snv 1.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs41549217
rs41549217
HLA-B ; MIR6891
1 1.000 0.040 6 31356108 non coding transcript exon variant G/T snv 5.2E-02 2.3E-03 0.700 1.000 1 2014 2014