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: rs6570989
rs6570989
1 1.000 0.080 6 101509537 intron variant G/A snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs68081839
rs68081839
3 0.882 0.080 11 105762027 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.010 1.000 1 2018 2018
dbSNP: rs16969868
rs16969868
1 1.000 0.080 13 107219364 intron variant G/C snv 3.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs848353
rs848353
3 1.000 0.080 7 108908603 upstream gene variant A/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs378042
rs378042
1 1.000 0.080 5 111524099 intron variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs4767364
rs4767364
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1465781973
rs1465781973
1 1.000 0.080 11 113395026 missense variant C/T snv 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs777160724
rs777160724
1 1.000 0.080 11 113396169 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2734849
rs2734849
1 1.000 0.080 11 113399438 missense variant A/C;G snv 4.5E-06; 0.39 0.010 1.000 1 2009 2009
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2009 2017
dbSNP: rs6278
rs6278
2 1.000 0.080 11 113410002 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2012 2017
dbSNP: rs1334465665
rs1334465665
1 1.000 0.080 11 113414400 missense variant C/T snv 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs4648318
rs4648318
2 1.000 0.080 11 113442667 intron variant T/C snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs4274224
rs4274224
1 1.000 0.080 11 113448730 intron variant G/A snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs7131056
rs7131056
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs4648317
rs4648317
1 1.000 0.080 11 113460810 intron variant G/A snv 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3758987
rs3758987
4 0.925 0.080 11 113904553 upstream gene variant T/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs4938056
rs4938056
2 0.925 0.080 11 113915817 intron variant C/T snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2013 2018
dbSNP: rs1486012
rs1486012
2 0.925 0.080 3 114120575 intergenic variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs2399496
rs2399496
2 0.925 0.080 3 114127166 downstream gene variant T/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs963468
rs963468
2 0.925 0.080 3 114144040 intron variant G/A snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2008 2008