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: rs1387153
rs1387153
10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1410713
rs1410713
1 1.000 0.040 20 3079704 downstream gene variant A/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2770381
rs2770381
1 1.000 0.040 20 3081340 downstream gene variant A/C snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1272388614
rs1272388614
5 0.851 0.080 11 17395658 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1446306735
rs1446306735
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs59852838
rs59852838
3 0.882 0.120 11 17453228 missense variant T/C snv 4.0E-05 4.9E-05 0.010 1.000 1 2008 2008
dbSNP: rs775776658
rs775776658
1 1.000 0.040 11 17474926 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2006 2006
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs534828104
rs534828104
2 0.925 0.080 3 186618566 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs2282018
rs2282018
AVP
1 1.000 0.040 20 3084303 intron variant C/T snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs6084264
rs6084264
AVP
1 1.000 0.040 20 3089925 upstream gene variant T/C snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3738435
rs3738435
2 0.925 0.080 1 239907303 intron variant T/C snv 0.23 0.010 < 0.001 1 2011 2011
dbSNP: rs953686324
rs953686324
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4580704
rs4580704
13 0.790 0.200 4 55460540 intron variant G/C snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs587777042
rs587777042
3 0.882 0.040 8 144096615 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10139403
rs10139403
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs4436578
rs4436578
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs373269573
rs373269573
2 0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs764437500
rs764437500
2 0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs8004664
rs8004664
3 0.925 0.080 14 89568628 intron variant G/A;C snv 0.010 < 0.001 1 2018 2018