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: rs11190141
rs11190141
NKX2-3 ; LINC01475
3 1.000 0.040 10 99532633 upstream gene variant C/T snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs6584283
rs6584283
LINC01475
12 0.776 0.080 10 99530544 intron variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs11189181
rs11189181
RRP12
2 10 97384397 intron variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs4919087
rs4919087 		2 10 97312750 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7516138
rs7516138
PIK3CD
2 1 9651584 upstream gene variant A/G snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs75963851
rs75963851 		3 11 95363157 intergenic variant A/G snv 3.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs445
rs445
CDK6
9 7 92779056 intron variant C/T snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs72699818
rs72699818
RIN3
4 14 92611266 intron variant T/C snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs12753280
rs12753280
EVI5
2 1 92550671 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs115340020
rs115340020
GLMN ; RPAP2
2 1 92300881 intron variant G/A snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs141094656
rs141094656
GLMN
2 1 92287779 intron variant T/C snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs35761782
rs35761782
POC1B
2 12 89504600 intron variant -/T delins 0.70 0.700 1.000 1 2016 2016
dbSNP: rs62551476
rs62551476 		2 9 88978375 downstream gene variant T/C snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1157008
rs1157008 		3 9 88920798 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs9410380
rs9410380 		2 9 88838716 regulatory region variant T/C snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs4432538
rs4432538
PLCB1 ; LOC105372521
4 20 8626746 intron variant G/A snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs11642657
rs11642657 		3 16 85982722 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9674233
rs9674233 		2 16 85978993 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12232384
rs12232384 		2 16 85976154 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs142105922
rs142105922 		2 16 85968988 intron variant TAATAA/-;TAA;TAATAATAA;TAATAATAATAA;TAATAATAATAATAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11640143
rs11640143 		2 16 85955858 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6540234
rs6540234
LOC105371388
2 16 85949450 downstream gene variant T/C snv 0.78 0.700 1.000 1 2016 2016
dbSNP: rs4843869
rs4843869 		2 16 85941535 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs12711490
rs12711490 		4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1021479
rs1021479 		2 16 85923808 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018