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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs4908760
rs4908760
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2013 2013
dbSNP: rs16843742
rs16843742
1 1.000 0.040 1 198703170 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs301807
rs301807
4 0.925 0.080 1 8424763 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs301819
rs301819
4 0.882 0.120 1 8441726 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs78037977
rs78037977
2 0.925 0.120 1 172746562 upstream gene variant A/G snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs78645479
rs78645479
4 0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.800 1.000 2 2012 2016
dbSNP: rs10200159
rs10200159
1 1.000 0.040 2 55617974 non coding transcript exon variant T/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs199559999
rs199559999
1 1.000 0.040 2 191090480 intron variant TAC/- del 0.700 1.000 1 2016 2016
dbSNP: rs2234663
rs2234663
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2018 2018
dbSNP: rs231725
rs231725
4 0.851 0.240 2 203875952 downstream gene variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs35652124
rs35652124
8 0.790 0.320 2 177265345 intron variant T/C snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs41342147
rs41342147
1 1.000 0.040 2 241468173 missense variant G/A;T snv 0.11; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs4308124
rs4308124
1 1.000 0.040 2 111252909 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.810 1.000 4 2010 2015
dbSNP: rs13076312
rs13076312
LPP
2 1.000 0.040 3 188371466 intron variant C/T snv 0.44 0.800 1.000 2 2010 2016
dbSNP: rs59374417
rs59374417
2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016