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: rs1041983
rs1041983
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1799929
rs1799929
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2006 2006
dbSNP: rs1799930
rs1799930
17 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs1799931
rs1799931
14 0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs1801280
rs1801280
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2019 2019
dbSNP: rs56379106
rs56379106
2 0.925 8 18222237 missense variant C/T snv 3.3E-03 3.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs72554611
rs72554611
2 0.925 8 18222834 missense variant A/G snv 2.1E-05 0.010 1.000 1 2017 2017