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: rs138700403
rs138700403
1 1.000 0.080 7 142768604 intron variant A/C snv 5.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs148771016
rs148771016
1 1.000 0.080 X 107318205 intergenic variant A/C snv 5.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs148933117
rs148933117
1 1.000 0.080 1 15791573 upstream gene variant A/C snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs2734221
rs2734221
1 1.000 0.080 7 142779536 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4826965
rs4826965
1 1.000 0.080 X 107370118 intergenic variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35031873
rs35031873
1 1.000 0.080 7 142758607 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs141052845
rs141052845
1 1.000 0.080 X 106964394 intron variant A/G snv 5.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs2473355
rs2473355
1 1.000 0.080 1 15423721 intron variant A/G snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs2855983
rs2855983
1 1.000 0.080 7 142770582 intron variant A/G snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs62470035
rs62470035
1 1.000 0.080 7 142652944 upstream gene variant A/G snv 7.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs62470644
rs62470644
1 1.000 0.080 7 142745362 upstream gene variant A/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs6693417
rs6693417
1 1.000 0.080 1 15436844 upstream gene variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs768255958
rs768255958
2 0.925 0.080 7 142751805 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs12008279
rs12008279
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17211
rs17211
1 1.000 0.080 7 142627230 missense variant C/A snv 0.13; 3.2E-05 9.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs17251
rs17251
3 0.925 0.120 7 142715462 intron variant C/A snv 0.33 0.37 0.700 1.000 1 2018 2018
dbSNP: rs2226970
rs2226970
1 1.000 0.080 7 142648438 downstream gene variant C/A snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs55833042
rs55833042
1 1.000 0.080 7 142758924 upstream gene variant C/A snv 0.700 1.000 1 2018 2018
dbSNP: rs7383917
rs7383917
1 1.000 0.080 7 142619745 downstream gene variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs3857776
rs3857776
1 1.000 0.080 7 142751439 non coding transcript exon variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10243591
rs10243591
1 1.000 0.080 7 142725721 downstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs144878061
rs144878061
1 1.000 0.080 1 15456801 splice region variant C/G snv 2.8E-02 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs148916504
rs148916504
1 1.000 0.080 7 142770747 intron variant C/G snv 0.700 1.000 1 2018 2018
dbSNP: rs2179628
rs2179628
1 1.000 0.080 X 107434651 intergenic variant C/G snv 4.4E-02 0.700 1.000 1 2018 2018