Source: BEFREE ×
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: rs121913530
rs121913530
55 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.880 1.000 8 2011 2019
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.800 0.963 26 2003 2019
dbSNP: rs1051730
rs1051730
37 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.800 0.952 19 2008 2018
dbSNP: rs2736100
rs2736100
73 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 18 2010 2015
dbSNP: rs8034191
rs8034191
19 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.800 0.833 16 2008 2017
dbSNP: rs401681
rs401681
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.800 1.000 15 2008 2018
dbSNP: rs121913529
rs121913529
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.933 12 2010 2019
dbSNP: rs3117582
rs3117582
8 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.760 1.000 6 2008 2017
dbSNP: rs113488022
rs113488022
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 5 2002 2018
dbSNP: rs11571833
rs11571833
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.857 5 2014 2018
dbSNP: rs4488809
rs4488809
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.750 1.000 5 2011 2019
dbSNP: rs2853677
rs2853677
15 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.740 1.000 4 2016 2019
dbSNP: rs17879961
rs17879961
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 3 2008 2016
dbSNP: rs34424986
rs34424986
6 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.720 0.500 2 2015 2020
dbSNP: rs4975616
rs4975616
9 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.720 1.000 2 2009 2010
dbSNP: rs7086803
rs7086803
8 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.720 1.000 2 2012 2018
dbSNP: rs753955
rs753955
9 0.776 0.120 13 23719720 regulatory region variant A/G snv 0.50 0.720 1.000 2 2011 2019
dbSNP: rs121913469
rs121913469
3 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.710 1.000 1 2004 2015
dbSNP: rs2395185
rs2395185
11 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.710 1.000 1 2012 2019
dbSNP: rs3184504
rs3184504
29 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 1 2015 2016
dbSNP: rs36600
rs36600
4 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.710 1.000 1 2011 2011
dbSNP: rs380286
rs380286
3 0.776 0.200 5 1320132 intron variant G/A snv 0.47 0.710 1.000 1 2014 2019
dbSNP: rs56113850
rs56113850
3 0.807 0.080 19 40847202 intron variant T/C snv 0.52 0.710 1.000 1 2016 2017
dbSNP: rs722864
rs722864
3 0.882 0.080 2 173118476 intron variant A/C;G;T snv 0.710 1.000 1 2017 2018
dbSNP: rs748404
rs748404
3 0.851 0.160 15 43267033 upstream gene variant T/C snv 0.17 0.710 1.000 1 2009 2011