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: rs10056340
rs10056340
3 0.925 0.080 5 110854353 intergenic variant T/G snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs1059513
rs1059513
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs17454584
rs17454584
6 0.851 0.080 4 122432277 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs17616434
rs17616434
2 1.000 4 38811255 intron variant T/C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs2155219
rs2155219
14 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs3771175
rs3771175
3 0.925 0.080 2 102343750 3 prime UTR variant T/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs4410871
rs4410871
2 0.925 0.080 8 127802783 intron variant T/C snv 0.74 0.700 1.000 1 2013 2013
dbSNP: rs6906021
rs6906021
6 0.827 0.320 6 32658534 upstream gene variant T/C snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs6932730
rs6932730
5 0.925 6 31386405 upstream gene variant T/C snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs9865818
rs9865818
LPP
2 1.000 3 188354725 intron variant A/G snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs13222905
rs13222905
3 0.882 0.160 7 150566901 upstream gene variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2009 2009
dbSNP: rs2251746
rs2251746
3 0.882 0.120 1 159302270 intron variant T/C snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs2289278
rs2289278
5 0.827 0.200 5 111073450 5 prime UTR variant C/G snv 8.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs2427837
rs2427837
5 0.851 0.160 1 159288755 upstream gene variant G/A snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs447713
rs447713
5 0.851 0.160 2 113130095 non coding transcript exon variant A/G snv 0.21 0.010 1.000 1 2006 2006
dbSNP: rs4742170
rs4742170
3 0.925 0.080 9 6242950 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.010 1.000 1 2009 2009
dbSNP: rs6965571
rs6965571
3 0.882 0.160 7 150737384 5 prime UTR variant G/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs71625199
rs71625199
1 1.000 1 152307488 synonymous variant C/A;T snv 8.0E-06; 2.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs769790595
rs769790595
5 0.827 0.120 16 27360785 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.010 1.000 1 2009 2009