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: rs353163
rs353163
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.040 1.000 4 2006 2013
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 0.667 3 2003 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 0.333 3 2007 2013
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.030 1.000 3 2002 2009
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.030 1.000 3 2006 2019
dbSNP: rs2395655
rs2395655
5 0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49 0.030 1.000 3 2014 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 0.333 3 2002 2009
dbSNP: rs2735343
rs2735343
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.030 1.000 3 2012 2016
dbSNP: rs56250509
rs56250509
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.030 1.000 3 2008 2012
dbSNP: rs773919809
rs773919809
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.030 1.000 3 2008 2012
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2014 2016
dbSNP: rs1050631
rs1050631
4 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.020 1.000 2 2013 2019
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2001 2013
dbSNP: rs11134527
rs11134527
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.020 1.000 2 2014 2018
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.020 0.500 2 2010 2013
dbSNP: rs12220909
rs12220909
5 0.827 0.240 10 14383222 mature miRNA variant G/C;T snv 4.9E-03 0.020 1.000 2 2015 2017
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.020 1.000 2 2014 2018
dbSNP: rs17417407
rs17417407
1 1.000 0.080 10 94171330 missense variant G/A;T snv 3.2E-05; 0.17 0.020 1.000 2 2012 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2013 2017
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2007 2008
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2010 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2006 2008
dbSNP: rs1834306
rs1834306
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.020 1.000 2 2014 2015
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.020 1.000 2 2010 2010
dbSNP: rs2074356
rs2074356
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.020 1.000 2 2014 2015