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: rs8042149
rs8042149
3 0.882 0.160 15 60832754 intron variant T/G snv 0.44 0.720 1.000 3 2013 2019
dbSNP: rs363276
rs363276
1 1.000 0.040 10 117274298 intron variant T/C;G snv 0.020 1.000 2 2014 2018
dbSNP: rs1042357
rs1042357
2 0.925 0.040 17 7001742 synonymous variant T/C;G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs4775301
rs4775301
2 0.925 0.040 15 60834660 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.030 0.667 3 2011 2012
dbSNP: rs1187327
rs1187327
1 1.000 0.040 9 84673625 intron variant T/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs12458282
rs12458282
MBP
1 1.000 0.040 18 77061897 intron variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2108977
rs2108977
1 1.000 0.040 11 18019049 3 prime UTR variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2268498
rs2268498
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs28932171
rs28932171
1 1.000 0.040 10 60071532 missense variant T/C snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs356195
rs356195
1 1.000 0.040 4 89762017 intron variant T/C snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs4311
rs4311
ACE
3 0.882 0.200 17 63483402 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs56242606
rs56242606
2 1.000 0.040 7 12382283 intron variant T/C snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs58649573
rs58649573
1 1.000 0.040 9 124005148 intron variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs682457
rs682457
1 1.000 0.040 11 88216364 intergenic variant T/C snv 0.14 0.800 1.000 1 2014 2014
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.060 1.000 6 2013 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.060 0.833 6 2008 2019
dbSNP: rs406001
rs406001
1 1.000 0.040 7 51938719 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.030 0.667 3 2012 2019
dbSNP: rs10744891
rs10744891
1 1.000 0.040 12 117284536 intron variant G/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs11599164
rs11599164
1 1.000 0.040 10 60072226 missense variant G/T snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.010 1.000 1 2018 2018