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: rs3916965
rs3916965
4 0.882 0.040 13 105451011 intergenic variant C/T snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs722642
rs722642
1 1.000 0.040 9 78681003 intergenic variant T/C snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs956572
rs956572
11 0.742 0.280 18 63153338 intron variant A/G snv 0.65 0.020 0.500 2 2011 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2005 2005
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2012 2016
dbSNP: rs1935057
rs1935057
1 1.000 0.040 13 105458997 upstream gene variant G/A snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs2391191
rs2391191
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.010 1.000 1 2010 2010
dbSNP: rs3916967
rs3916967
3 0.882 0.040 13 105464999 intron variant T/C snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs5326
rs5326
6 0.851 0.160 5 175443193 5 prime UTR variant C/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2619522
rs2619522
6 0.827 0.080 6 15653418 intron variant A/C snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs11956731
rs11956731
1 1.000 0.040 5 161700816 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs13188991
rs13188991
1 1.000 0.040 5 161685998 synonymous variant G/A;C snv 0.19 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2197414
rs2197414
1 1.000 0.040 5 161681878 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs4921195
rs4921195
1 1.000 0.040 5 161684582 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11636988
rs11636988
1 1.000 0.040 15 26577667 intron variant G/A snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs8024256
rs8024256
1 1.000 0.040 15 26584374 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs3815762
rs3815762
1 1.000 0.040 5 170788816 intron variant T/A snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs4868029
rs4868029
1 1.000 0.040 5 170790498 intron variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs17026688
rs17026688
2 1.000 0.040 3 30845325 intron variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs5848
rs5848
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs1475196
rs1475196
1 1.000 0.040 13 46881488 intron variant A/C snv 1.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs6305
rs6305
3 0.882 0.040 13 46892487 synonymous variant G/A snv 1.8E-02 1.7E-02 0.010 1.000 1 2003 2003