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: rs1000283
rs1000283
2 0.925 0.080 1 209721316 intron variant G/A snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs10010131
rs10010131
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs10033652
rs10033652
1 1.000 0.040 4 81571913 intron variant C/T snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs1003880422
rs1003880422
TH
2 0.925 0.080 11 2166716 missense variant G/A;T snv 6.9E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs10052957
rs10052957
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1007888
rs1007888
4 0.882 0.120 22 23898914 non coding transcript exon variant C/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs10085637
rs10085637
1 1.000 0.040 7 95596501 5 prime UTR variant T/C;G snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs10096633
rs10096633
8 1.000 0.040 8 19973410 regulatory region variant C/T snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs10185316
rs10185316
1 1.000 0.040 2 118086902 upstream gene variant C/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs102275
rs102275
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs10247649
rs10247649
2 0.925 0.080 7 95586935 non coding transcript exon variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1040288
rs1040288
3 1.000 0.040 4 148126966 intron variant G/C snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2005 2005
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2013 2013
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2016 2016
dbSNP: rs10468017
rs10468017
12 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs10484092
rs10484092
2 1.000 0.040 14 51489516 intron variant A/G snv 4.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs10488698
rs10488698
2 1.000 0.040 11 116763231 missense variant G/A snv 6.4E-02 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.020 1.000 2 2010 2011
dbSNP: rs1049673
rs1049673
7 0.807 0.160 7 80677034 3 prime UTR variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs10499859
rs10499859
2 0.925 0.120 7 80629494 intron variant A/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs10503669
rs10503669
8 0.925 0.080 8 19990179 intergenic variant C/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs1051295
rs1051295
3 0.925 0.080 20 49372368 3 prime UTR variant A/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2006 2006