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: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.900 1.000 15 2006 2019
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 2 2013 2019
dbSNP: rs1566446604
rs1566446604
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs10131567
rs10131567
1 1.000 0.040 14 35395672 intergenic variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10244416
rs10244416
1 1.000 0.040 7 20536128 intergenic variant C/A;T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs10245867
rs10245867
2 0.925 0.080 7 28102567 intron variant G/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1025549
rs1025549
1 1.000 0.040 2 198016459 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1032841
rs1032841
1 1.000 0.040 2 8526108 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10468514
rs10468514
1 1.000 0.040 17 45378874 intergenic variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10519068
rs10519068
2 0.925 0.120 15 60776505 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10756796
rs10756796
1 1.000 0.040 9 16730976 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10791824
rs10791824
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10822037
rs10822037
1 1.000 0.040 10 62616798 intron variant T/C snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10910095
rs10910095
2 1.000 0.040 1 2579316 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10937319
rs10937319
1 1.000 0.040 3 187711669 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10947428
rs10947428
2 1.000 0.040 6 33679281 intron variant T/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10991797
rs10991797
1 1.000 0.040 9 91168389 intron variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs111267073
rs111267073
1 1.000 0.040 5 111030094 intergenic variant C/T snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11213941
rs11213941
1 1.000 0.040 11 111563369 downstream gene variant T/C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs112401631
rs112401631
8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11242709
rs11242709
2 1.000 0.040 6 209159 upstream gene variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11255753
rs11255753
2 1.000 0.040 10 8563590 intergenic variant G/C;T snv 0.23 0.700 1.000 1 2019 2019