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: rs2240158
rs2240158
2 0.925 0.120 19 1005231 missense variant C/T snv 0.36 0.41 0.010 1.000 1 2016 2016
dbSNP: rs17189632
rs17189632
1 1.000 0.080 9 101605720 intron variant T/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1650420
rs1650420
2 1.000 0.080 16 10174473 intron variant T/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs3219790
rs3219790
1 1.000 0.080 16 10183568 upstream gene variant CACACACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACACA delins 0.010 1.000 1 2013 2013
dbSNP: rs768020372
rs768020372
1 1.000 0.080 12 111792761 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2002 2002
dbSNP: rs4492854
rs4492854
1 1.000 0.080 11 113112812 intron variant C/T snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs900418273
rs900418273
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.040 1.000 4 2009 2019
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2013 2019
dbSNP: rs4648319
rs4648319
1 1.000 0.080 11 113443641 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs11606194
rs11606194
1 1.000 0.080 11 113910259 intron variant T/C snv 6.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2011 2011
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs9825563
rs9825563
2 1.000 0.080 3 114181373 intron variant A/G snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs363332
rs363332
1 1.000 0.080 10 117243156 intron variant G/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs363334
rs363334
1 1.000 0.080 10 117245484 intron variant C/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs363338
rs363338
1 1.000 0.080 10 117249878 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs1986513
rs1986513
1 1.000 0.080 4 125146073 intergenic variant A/T snv 8.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1714984
rs1714984
1 1.000 0.080 17 12714384 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1389752
rs1389752
2 0.925 0.080 9 13235288 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1867898
rs1867898
1 1.000 0.080 2 133762000 intergenic variant G/A snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs9384169
rs9384169
1 1.000 0.080 6 153992036 intergenic variant T/C snv 0.36 0.010 1.000 1 2015 2015