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: rs749582333
rs749582333
2 0.925 0.040 11 89340157 frameshift variant G/- delins 0.020 1.000 2 2016 2017
dbSNP: rs1056515
rs1056515
3 0.882 0.040 1 163143470 3 prime UTR variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs12347433
rs12347433
3 0.882 0.040 9 115035318 synonymous variant T/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs12564445
rs12564445
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs13447720
rs13447720
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs138227502
rs138227502
2 0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs1384889210
rs1384889210
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs16881446
rs16881446
2 0.925 0.040 4 11406961 intron variant T/C snv 0.27 0.700 1.000 1 2004 2004
dbSNP: rs180749
rs180749
1 1.000 0.040 5 35033500 missense variant G/A snv 0.95 0.94 0.010 1.000 1 2015 2015
dbSNP: rs212528
rs212528
3 0.925 0.040 1 21259168 intron variant T/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2269422
rs2269422
3 0.882 0.040 6 32183517 intron variant T/C snv 1.7E-02 5.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs2298566
rs2298566
5 0.827 0.040 11 130880747 missense variant A/C;T snv 0.77; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2820315
rs2820315
5 0.882 0.040 1 201903136 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs2972146
rs2972146
9 0.882 0.040 2 226235982 intergenic variant G/T snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs3736234
rs3736234
4 0.851 0.040 12 10160535 non coding transcript exon variant G/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs3900940
rs3900940
6 0.827 0.040 3 108428881 missense variant T/A;C snv 4.3E-06; 0.24 0.010 1.000 1 2007 2007
dbSNP: rs4142986
rs4142986
2 0.925 0.040 9 99052344 intron variant C/A;G;T snv 1.1E-04; 0.75; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4552883
rs4552883
2 0.925 0.040 8 139234730 regulatory region variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs4845623
rs4845623
4 0.925 0.040 1 154443301 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs4916251
rs4916251
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4987262
rs4987262
4 0.882 0.040 19 46623592 missense variant G/A;C snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs499952
rs499952
2 0.925 0.040 11 94449826 intron variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs6918289
rs6918289
2 0.925 0.040 6 41134089 intron variant G/T snv 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs7177922
rs7177922
2 0.925 0.040 15 33616418 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs750996166
rs750996166
2 0.925 0.040 1 161041409 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004