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: rs998884
rs998884
1 1.000 0.040 2 147782283 intergenic variant A/G snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs9980603
rs9980603
2 0.925 0.080 21 40514656 intron variant T/C snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs9966951
rs9966951
1 1.000 0.040 18 60108063 intergenic variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs9936170
rs9936170
1 1.000 0.040 16 87477955 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9896243
rs9896243
1 1.000 0.040 17 46748690 intron variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs9870384
rs9870384
1 1.000 0.040 3 84960666 intron variant C/T snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs9861237
rs9861237
1 1.000 0.040 3 85353319 intron variant T/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs9854869
rs9854869
2 1.000 0.040 3 85371574 intron variant C/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs9837462
rs9837462
1 1.000 0.040 3 85109415 intron variant C/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs9836178
rs9836178
1 1.000 0.040 3 52891387 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9829032
rs9829032
2 0.925 0.080 3 85634450 intron variant A/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs9828595
rs9828595
1 1.000 0.040 3 85843897 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9811546
rs9811546
1 1.000 0.040 3 85342522 intron variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs9671386
rs9671386
1 1.000 0.040 14 74684344 intron variant G/A snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs900418273
rs900418273
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.020 1.000 2 2008 2009
dbSNP: rs888415
rs888415
1 1.000 0.040 14 74642492 regulatory region variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs818219
rs818219
1 1.000 0.040 3 85325439 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs8067056
rs8067056
5 0.925 0.080 17 46006582 intron variant T/C;G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs80533
rs80533
2 1.000 0.040 22 40689965 intergenic variant A/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0