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: rs5754227
rs5754227
4 0.851 0.040 22 32709831 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs8135665
rs8135665
4 0.851 0.040 22 38080269 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs142450006
rs142450006
4 0.851 0.040 20 45986353 regulatory region variant TTCT/-;TTCTTTCT delins 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs201459901
rs201459901
4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.700 1.000 2 2012 2016
dbSNP: rs12019136
rs12019136
4 0.851 0.040 19 5835666 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs147859257
rs147859257
C3
6 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2016 2016
dbSNP: rs67538026
rs67538026
4 0.851 0.040 19 1031439 intron variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
5 0.851 0.040 19 45245104 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11080055
rs11080055
5 0.851 0.040 17 28322698 intron variant A/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs6565597
rs6565597
4 0.851 0.040 17 81559795 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs17231506
rs17231506
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.700 1.000 1 2015 2015
dbSNP: rs28368872
rs28368872
3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs5817082
rs5817082
4 0.851 0.040 16 56963437 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs72802342
rs72802342
5 0.851 0.040 16 75200974 downstream gene variant C/A snv 6.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs2043085
rs2043085
9 0.827 0.080 15 58388755 intron variant T/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs2070895
rs2070895
15 0.807 0.120 15 58431740 intron variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs2842339
rs2842339
4 0.851 0.040 14 68520282 intron variant G/A snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs61985136
rs61985136
4 0.851 0.040 14 68302482 intron variant C/T snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs75165563
rs75165563
2 0.925 0.040 14 57220928 intron variant A/C snv 4.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs8002574
rs8002574
2 0.925 0.040 13 39504403 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs9564692
rs9564692
4 0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36 0.700 1.000 1 2016 2016