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: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.020 1.000 2 1996 2000
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2009 2017
dbSNP: rs10883866
rs10883866
3 0.882 0.160 10 81883883 intron variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
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 2005 2005
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs2153674
rs2153674
1 1.000 0.040 13 105478789 intron variant C/T snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2010 2010
dbSNP: rs5905587
rs5905587
NDP
1 1.000 0.040 X 43974750 upstream gene variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs5930
rs5930
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2008 2008
dbSNP: rs63750577
rs63750577
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs6494223
rs6494223
3 0.882 0.120 15 32104256 intron variant C/T snv 0.43 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 1.000 1 2008 2008
dbSNP: rs9875793
rs9875793
3 0.925 0.080 3 170968784 intron variant A/G snv 0.14 0.010 1.000 1 2012 2012