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: 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 2018 2018
dbSNP: rs12402521
rs12402521
2 1 186453389 intron variant G/A snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs150016118
rs150016118
6 0.882 0.120 11 74006339 missense variant A/G snv 1.7E-05 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1554483
rs1554483
5 0.882 0.160 4 55455650 intron variant C/G snv 0.33 0.010 1.000 1 2008 2008
dbSNP: rs2419621
rs2419621
3 0.925 0.080 10 112375255 non coding transcript exon variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs3791783
rs3791783
2 1.000 0.080 2 190059437 intron variant T/C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs4864548
rs4864548
8 0.827 0.160 4 55547636 non coding transcript exon variant G/A snv 0.33 0.010 1.000 1 2008 2008
dbSNP: rs6235
rs6235
8 0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2013 2013
dbSNP: rs660339
rs660339
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2018 2018
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
dbSNP: rs6850524
rs6850524
3 0.925 0.080 4 55515830 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs777659543
rs777659543
6 0.882 0.120 11 74006231 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs8450
rs8450
2 1.000 0.040 1 153947810 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019