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: rs1057516039
rs1057516039
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121909574
rs121909574
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 1 2015 2015
dbSNP: rs797044484
rs797044484
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs144078282
rs144078282
9 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 0.700 0
dbSNP: rs1553547838
rs1553547838
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs1554496813
rs1554496813
8 0.827 0.160 7 152177839 frameshift variant -/G delins 0.700 0
dbSNP: rs1555564126
rs1555564126
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs1556914274
rs1556914274
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs1565679039
rs1565679039
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs200203460
rs200203460
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs387907141
rs387907141
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs587783446
rs587783446
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs61749721
rs61749721
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs77078070
rs77078070
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs786205508
rs786205508
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs864309532
rs864309532
7 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
dbSNP: rs2235371
rs2235371
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.030 1.000 3 2009 2019
dbSNP: rs41268753
rs41268753
3 0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 0.030 0.667 3 2016 2018
dbSNP: rs104894110
rs104894110
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs1546124
rs1546124
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs4783099
rs4783099
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.020 1.000 2 2011 2017
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013