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: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs786204858
rs786204858
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0
dbSNP: rs864321670
rs864321670
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.941 17 2001 2017
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2001 2001
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.060 1.000 6 2002 2017
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2002 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.910 89 2003 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.901 81 2003 2020
dbSNP: rs2072446
rs2072446
11 0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 0.020 1.000 2 2004 2013
dbSNP: rs1800041
rs1800041
4 0.882 0.120 5 63961673 missense variant G/A snv 1.8E-03 5.3E-04 0.010 1.000 1 2004 2004
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 1.000 5 2006 2014
dbSNP: rs1220000453
rs1220000453
5 0.882 0.120 11 58624189 synonymous variant C/T snv 0.020 1.000 2 2006 2009
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2007 2009
dbSNP: rs553040076
rs553040076
3 0.925 0.080 19 10417700 missense variant T/A snv 4.5E-05 7.7E-05 0.010 1.000 1 2007 2007
dbSNP: rs747052707
rs747052707
3 0.925 0.080 11 49192822 missense variant T/C snv 2.4E-05; 8.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.857 21 2008 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.100 0.929 14 2008 2017