Source: CURATED ×
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
39 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 1 2008 2016
dbSNP: rs11209026
rs11209026
5 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.857 2 2008 2018
dbSNP: rs20541
rs20541
8 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 4 2008 2015
dbSNP: rs17728338
rs17728338
3 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.820 1.000 5 2009 2015
dbSNP: rs2066808
rs2066808
3 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.810 1.000 4 2009 2015
dbSNP: rs610604
rs610604
3 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.860 1.000 4 2009 2015
dbSNP: rs10484554
rs10484554
8 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.810 1.000 3 2008 2018
dbSNP: rs11795343
rs11795343
1 1.000 0.040 9 32523739 intron variant T/C snv 0.41 0.800 1.000 3 2012 2015
dbSNP: rs12580100
rs12580100
1 1.000 0.040 12 56045425 upstream gene variant A/G snv 0.14 0.800 1.000 3 2010 2015
dbSNP: rs12720356
rs12720356
7 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 3 2010 2018
dbSNP: rs17716942
rs17716942
2 0.925 0.040 2 162404181 intron variant T/C snv 9.6E-02 0.800 1.000 3 2010 2015
dbSNP: rs2111485
rs2111485
12 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.700 1.000 3 2012 2016
dbSNP: rs240993
rs240993
1 1.000 0.040 6 111352511 intron variant T/A;C snv 0.800 1.000 3 2010 2015
dbSNP: rs4795067
rs4795067
1 0.882 0.280 17 27779649 intron variant A/G snv 0.31 0.820 1.000 3 2010 2015
dbSNP: rs495337
rs495337
2 0.925 0.120 20 49905793 synonymous variant G/A snv 0.44 0.35 0.810 1.000 3 2008 2015
dbSNP: rs582757
rs582757
5 0.776 0.320 6 137876687 intron variant C/T snv 0.70 0.800 1.000 3 2012 2016
dbSNP: rs8016947
rs8016947
1 0.925 0.080 14 35363460 intron variant T/G snv 0.60 0.810 1.000 3 2010 2015
dbSNP: rs10782001
rs10782001
2 1.000 0.040 16 30931304 intron variant G/A snv 0.53 0.800 1.000 2 2010 2015
dbSNP: rs10794648
rs10794648
1 1.000 0.040 1 24191716 upstream gene variant T/C snv 0.68 0.700 1.000 2 2015 2015
dbSNP: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 2 2012 2016
dbSNP: rs12191877
rs12191877
6 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.830 1.000 2 2009 2015
dbSNP: rs12586317
rs12586317
1 1.000 0.040 14 35212966 intron variant T/C snv 0.19 0.800 1.000 2 2010 2015
dbSNP: rs1265181
rs1265181
2 0.925 0.040 6 31188008 intergenic variant G/C snv 0.15 0.710 1.000 2 2009 2019
dbSNP: rs12884468
rs12884468
2 0.925 0.040 14 35383280 downstream gene variant T/C snv 0.47 0.700 1.000 2 2015 2015
dbSNP: rs2082412
rs2082412
2 0.925 0.120 5 159290781 downstream gene variant G/A snv 0.27 0.800 1.000 2 2009 2015