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: rs478665
rs478665
JAK1
2 1 65049850 intron variant A/G snv 5.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs16906958
rs16906958
LOC105375916
2 8 79608410 upstream gene variant G/A snv 6.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs727333
rs727333
DSCAM
3 1.000 0.080 21 40331020 intron variant C/A snv 6.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs10515260
rs10515260 		2 5 97740844 downstream gene variant T/C snv 6.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs10501858
rs10501858 		2 11 126160720 non coding transcript exon variant G/A snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs6016142
rs6016142 		3 1.000 0.120 20 39672165 intergenic variant C/T snv 7.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs17042688
rs17042688
LOC730100
2 2 52284656 intron variant G/T snv 8.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs2567769
rs2567769
LOC101927066
2 8 97285620 intergenic variant G/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.700 1.000 1 2012 2012
dbSNP: rs12565140
rs12565140 		2 1 33463157 upstream gene variant T/C snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs12913657
rs12913657
SPPL2A
2 15 50708771 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs200932358
rs200932358
LOC102724596
2 17 49368390 intron variant AAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT delins 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2567768
rs2567768
LOC101927066
2 8 97290923 intergenic variant G/A snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2567773
rs2567773
LOC101927066
2 8 97266954 intergenic variant G/A snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs4761470
rs4761470
PLXNC1 ; CEP83
2 12 94289428 intron variant G/A snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs3779195
rs3779195
BAIAP2L1
3 7 98364050 intron variant T/A snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs2451113
rs2451113
LOC101927066
2 8 97261220 regulatory region variant G/A snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs2853312
rs2853312
LOC101927066
2 8 97269091 downstream gene variant T/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs2439702
rs2439702
LOC101927066
2 8 97260419 regulatory region variant C/T snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs12150660
rs12150660
SHBG
5 1.000 0.040 17 7618597 intron variant G/T snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2053481
rs2053481
LOC101927066
2 8 97266695 intergenic variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2451114
rs2451114
LOC101927066
2 8 97261534 regulatory region variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2853318
rs2853318
LOC101927066
2 8 97271281 downstream gene variant A/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2853320
rs2853320
LOC101927066
2 8 97271295 downstream gene variant C/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2439700
rs2439700
LOC101927066
2 8 97264940 intergenic variant G/A snv 0.18 0.700 1.000 1 2013 2013