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: rs545854
rs545854
4 0.882 0.160 8 10002570 intron variant G/C snv 0.85 0.010 1.000 1 2011 2011
dbSNP: rs7826222
rs7826222
1 1.000 0.080 8 10002570 intron variant G/C snv 0.700 1.000 1 2009 2009
dbSNP: rs757139012
rs757139012
3 0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs3734354
rs3734354
2 1.000 0.080 6 100420903 missense variant G/A;T snv 1.6E-04; 0.18 0.020 1.000 2 2010 2017
dbSNP: rs756633599
rs756633599
2 0.925 0.080 6 100447299 missense variant G/A snv 1.6E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs3213541
rs3213541
1 1.000 0.080 6 100448367 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10895068
rs10895068
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs35400704
rs35400704
VGF
1 1.000 0.080 7 101163271 stop gained C/A;G;T snv 6.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs7973796
rs7973796
2 1.000 0.080 12 102202345 non coding transcript exon variant G/A snv 0.56 0.010 1.000 1 2007 2007
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs782656324
rs782656324
2 0.925 0.120 7 102273394 missense variant C/G;T snv 8.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs6219
rs6219
2 1.000 0.080 12 102396414 3 prime UTR variant C/T snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs2293225
rs2293225
2 0.925 0.200 2 102419429 intron variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs2272127
rs2272127
3 1.000 0.080 2 102423413 intron variant C/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs7559479
rs7559479
1 1.000 0.080 2 102452327 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs35767
rs35767
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs679620
rs679620
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2017 2017
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.710 < 0.001 1 2009 2009
dbSNP: rs2075356
rs2075356
5 0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs1422753499
rs1422753499
2 0.925 0.120 11 102873034 missense variant T/C;G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.050 1.000 5 2005 2019