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: rs10068521
rs10068521
1 5 35230278 5 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs10245353
rs10245353
4 7 25818994 intergenic variant C/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs10278590
rs10278590
1 7 150338437 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1042531
rs1042531
1 20 57565924 3 prime UTR variant T/G snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs1042842
rs1042842
1 1 12011623 3 prime UTR variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1050800
rs1050800
1 2 11825688 3 prime UTR variant C/T snv 0.12 0.010 < 0.001 1 2018 2018
dbSNP: rs10511544
rs10511544
1 9 10319881 intron variant A/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs10756026
rs10756026
1 9 10337976 intron variant T/A snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs10762264
rs10762264
1 10 69217077 intron variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs10802502
rs10802502
1 1 247448993 3 prime UTR variant C/T snv 0.55 0.010 < 0.001 1 2018 2018
dbSNP: rs10804591
rs10804591
5 3 129615390 intergenic variant C/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs10809070
rs10809070
1 9 10341235 intron variant C/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs13154178
rs13154178
1 5 42827999 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs17429130
rs17429130
1 1 165401015 3 prime UTR variant G/C snv 4.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800038
rs1800038
1 10 111079134 synonymous variant C/A snv 7.4E-02 4.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs201607471
rs201607471
1 8 37966397 missense variant C/T snv 8.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs2236745
rs2236745
1 20 57561937 non coding transcript exon variant T/C snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs2254514
rs2254514
1 4 141719385 5 prime UTR variant T/A;C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs231841
rs231841
1 11 2702374 intron variant G/T snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs2328549
rs2328549
1 6 20718009 intron variant A/T snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs2394529
rs2394529
1 10 69225511 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2585
rs2585
1 11 2129214 3 prime UTR variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs275645
rs275645
1 3 148746667 downstream gene variant G/A snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs3025010
rs3025010
1 6 43779840 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs34309
rs34309
2 5 68268555 intron variant G/A snv 0.29 0.010 1.000 1 2019 2019