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: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1799836
rs1799836
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs393795
rs393795
4 0.851 0.160 5 1428399 intron variant G/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1563945076
rs1563945076
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs165815
rs165815
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.010 1.000 1 2019 2019
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs752513525
rs752513525
3 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1267306614
rs1267306614
1 1.000 0.080 3 114171850 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1345423
rs1345423
1 1.000 0.080 16 10154207 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2293054
rs2293054
2 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs387907128
rs387907128
2 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4704559
rs4704559
4 0.925 0.080 5 79517086 upstream gene variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs4911871
rs4911871
1 1.000 0.080 X 114762580 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs1064794533
rs1064794533
4 0.882 0.080 16 56336846 missense variant G/A snv 0.700 0
dbSNP: rs864309483
rs864309483
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0