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: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.020 1.000 2 2019 2019
dbSNP: rs267606670
rs267606670
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.050 1.000 5 2007 2018
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.030 1.000 3 2003 2009
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs796052243
rs796052243
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs995922697
rs995922697
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2006 2006
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2009 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2009 2012
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 1.000 2 2003 2010
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2010 2010
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2012 2018