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: rs7323466
rs7323466 		1 13 100019615 intergenic variant T/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs2503099
rs2503099
LOC105377911
1 6 100162225 regulatory region variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs2073267
rs2073267 		1 6 100167776 TF binding site variant A/G snv 0.22 0.700 1.000 2 2018 2019
dbSNP: rs4851284
rs4851284
LONRF2
1 2 100278425 3 prime UTR variant C/T snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs2151131
rs2151131
TEX10
1 9 100346659 intron variant C/G snv 0.84 0.85 0.700 1.000 1 2019 2019
dbSNP: rs7122422
rs7122422
SBF2
1 11 10045715 intron variant G/C snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs10840349
rs10840349
SBF2
1 11 10054883 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6747755
rs6747755
NPAS2
1 2 100961996 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs9557704
rs9557704
ITGBL1
1 13 101575144 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs421168
rs421168
CUX1
1 7 102050604 intron variant G/A snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs372321
rs372321
CUX1
1 7 102077726 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs367026
rs367026
CUX1
1 7 102085358 intron variant T/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs140572498
rs140572498
LOC105369944
1 12 102569167 intergenic variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs28408682
rs28408682
TRIM8
1 10 102643553 5 prime UTR variant A/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs12590238
rs12590238
TRAF3
1 14 102883860 intron variant C/G snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs2061708
rs2061708
COL11A1
2 1 102951647 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17154889
rs17154889
PAM
1 5 102969361 intron variant C/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2061705
rs2061705
COL11A1
1 1 102976258 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12419064
rs12419064 		1 11 10299061 upstream gene variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs1415364
rs1415364
COL11A1
1 1 103087259 intron variant C/T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs2513987
rs2513987 		1 11 103106542 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2957658
rs2957658
AMPD3 ; CAND1.11
1 11 10371921 intron variant G/A snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2161097
rs2161097 		1 5 104609477 intron variant C/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs11042841
rs11042841
AMPD3
1 11 10483662 intron variant C/G snv 0.70 0.700 1.000 1 2019 2019