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: rs121913279
rs121913279
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 4 2004 2016
dbSNP: rs104886003
rs104886003
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 2004 2016
dbSNP: rs104894230
rs104894230
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 1 2014 2017
dbSNP: rs121909229
rs121909229
1 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.710 1.000 1 2016 2016
dbSNP: rs121912664
rs121912664
40 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 1 2013 2013
dbSNP: rs17849781
rs17849781
8 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
dbSNP: rs28934874
rs28934874
1 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
dbSNP: rs760043106
rs760043106
16 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs876660754
rs876660754
4 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 1 2016 2017
dbSNP: rs796065354
rs796065354
9 0.882 0.080 6 151944320 missense variant A/G snv 0.040 1.000 4 2005 2009
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2005 2011
dbSNP: rs1462893414
rs1462893414
5 0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2007
dbSNP: rs11249433
rs11249433
8 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs1131691014
rs1131691014
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs17879961
rs17879961
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2012 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
dbSNP: rs1056892
rs1056892
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2016 2016
dbSNP: rs10941679
rs10941679
11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
33 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs11540654
rs11540654
1 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs11895168
rs11895168
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 < 0.001 1 2016 2016
dbSNP: rs1213469537
rs1213469537
9 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017