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: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.100 1.000 13 2007 2019
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.880 1.000 12 2007 2016
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.880 1.000 11 2007 2019
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.790 1.000 10 2002 2014
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.850 1.000 9 2008 2016
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.830 1.000 9 2007 2019
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.860 1.000 8 2006 2019
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.850 1.000 8 2008 2016
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.830 1.000 8 2008 2017
dbSNP: rs5743293
rs5743293
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.830 1.000 8 2007 2017
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.760 1.000 8 2005 2018
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.870 1.000 8 2008 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.850 1.000 7 2006 2020
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.850 1.000 7 2007 2015
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.850 1.000 7 2006 2013
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.850 1.000 7 2005 2018
dbSNP: rs5743272
rs5743272
1 1.000 0.040 16 50710966 missense variant A/G snv 9.6E-04 3.8E-03 0.710 1.000 7 2001 2018
dbSNP: rs5743277
rs5743277
2 1.000 0.040 16 50712018 missense variant C/G;T snv 1.2E-05; 3.2E-03 0.710 1.000 7 2001 2016
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.830 1.000 7 2005 2016
dbSNP: rs76418789
rs76418789
3 0.882 0.080 1 67182913 missense variant G/A snv 7.3E-03 4.5E-03 0.850 1.000 7 2011 2019
dbSNP: rs104895420
rs104895420
1 1.000 0.040 16 50699883 missense variant T/C snv 1.3E-04 5.6E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895422
rs104895422
1 1.000 0.040 16 50710614 missense variant C/T snv 1.0E-04 1.3E-04 0.700 1.000 6 2001 2016
dbSNP: rs104895423
rs104895423
1 1.000 0.040 16 50710654 missense variant T/G snv 5.6E-04 2.6E-04 0.700 1.000 6 2001 2016
dbSNP: rs104895424
rs104895424
1 1.000 0.040 16 50710782 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 6 2001 2016
dbSNP: rs104895425
rs104895425
1 1.000 0.040 16 50710792 missense variant C/G snv 1.9E-03 1.5E-03 0.700 1.000 6 2001 2016