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: rs478582
rs478582
1 1.000 0.120 18 12835977 intron variant T/C snv 0.35 0.040 1.000 4 2011 2019
dbSNP: rs1445898
rs1445898
1 1.000 0.120 5 35910427 missense variant C/T snv 0.51 0.42 0.020 1.000 2 2008 2014
dbSNP: rs370443546
rs370443546
1 1.000 0.120 2 203870744 missense variant A/G snv 4.0E-06 2.8E-05 0.020 1.000 2 2006 2007
dbSNP: rs757518063
rs757518063
1 1.000 0.120 2 202210797 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.020 1.000 2 2011 2012
dbSNP: rs941576
rs941576
1 1.000 0.120 14 100839708 intron variant A/G snv 0.45 0.820 1.000 2 2010 2015
dbSNP: rs9585056
rs9585056
1 1.000 0.120 13 99429512 non coding transcript exon variant C/G;T snv 0.710 1.000 2 2010 2015
dbSNP: rs10011025
rs10011025
1 1.000 0.120 4 174733072 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1012411
rs1012411
1 1.000 0.120 6 30364778 upstream gene variant T/G snv 0.32 0.700 1.000 1 2007 2007
dbSNP: rs10186193
rs10186193
1 1.000 0.120 2 3550384 synonymous variant T/C snv 0.33 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1023934247
rs1023934247
1 1.000 0.120 10 70598292 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs10255021
rs10255021
1 1.000 0.120 7 94402493 intron variant G/A snv 0.13 0.700 1.000 1 2007 2007
dbSNP: rs10277986
rs10277986
1 1.000 0.120 7 50961290 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10492166
rs10492166
1 1.000 0.120 12 9733403 upstream gene variant G/A snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1053924
rs1053924
1 1.000 0.120 6 32152938 non coding transcript exon variant T/C snv 0.71 0.700 1.000 1 2007 2007
dbSNP: rs1055271
rs1055271
1 1.000 0.120 22 50489911 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1065356
rs1065356
1 1.000 0.120 6 31719231 synonymous variant G/A snv 0.27 0.31 0.700 1.000 1 2007 2007
dbSNP: rs10743152
rs10743152
TH
1 1.000 0.120 11 2174751 upstream gene variant T/C snv 0.63 0.700 1.000 1 2007 2007
dbSNP: rs10774654
rs10774654
1 1.000 0.120 12 112525756 intergenic variant A/G snv 0.20 0.700 1.000 1 2008 2008
dbSNP: rs10786436
rs10786436
1 1.000 0.120 10 98540425 intron variant C/T snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs10807113
rs10807113
1 1.000 0.120 6 32754409 upstream gene variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10810632
rs10810632
1 1.000 0.120 9 16789026 intron variant C/T snv 0.85 0.700 1.000 1 2010 2010
dbSNP: rs10850053
rs10850053
1 1.000 0.120 12 112539973 regulatory region variant T/C snv 0.19 0.700 1.000 1 2008 2008
dbSNP: rs11052552
rs11052552
1 1.000 0.120 12 9703362 upstream gene variant T/G snv 0.42 0.800 1.000 1 2007 2007
dbSNP: rs11074932
rs11074932
1 1.000 0.120 16 10874479 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11160219
rs11160219
1 1.000 0.120 14 94869154 regulatory region variant A/G snv 0.75 0.700 1.000 1 2010 2010