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: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs7035473
rs7035473
2 9 135121519 downstream gene variant A/G snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs7121616
rs7121616
2 11 123095918 intron variant A/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs73055009
rs73055009
2 5 24058406 intron variant A/G snv 7.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs73112098
rs73112098
1 5 67247451 regulatory region variant A/G snv 4.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs929596
rs929596
9 0.925 0.040 2 233765830 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs2586052
rs2586052
1 17 57885718 5 prime UTR variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs113051092
rs113051092
2 5 24060490 intron variant A/T snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs638452
rs638452
2 11 56495642 upstream gene variant A/T snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs67384697
rs67384697
2 1.000 0.040 6 31268906 3 prime UTR variant C/- delins 6.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs11568350
rs11568350
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs12662869
rs12662869
4 0.925 0.120 6 25784253 intron variant C/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1552896
rs1552896
1 9 14841389 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2014 2019
dbSNP: rs2853699
rs2853699
1 3 39332411 missense variant C/A;G;T snv 4.0E-06; 0.21; 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs4435343
rs4435343
2 18 43322011 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4936770
rs4936770
2 11 123058167 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs72609945
rs72609945
2 8 26048781 upstream gene variant C/A;T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs73055087
rs73055087
2 5 24062454 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs10929301
rs10929301
4 2 233755003 splice region variant C/G;T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs16893073
rs16893073
2 5 24072508 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs756207760
rs756207760
2 2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999