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: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2012 2012
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2012 2012
dbSNP: rs371308207
rs371308207
C1D
4 0.882 0.080 2 68047303 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs6276
rs6276
8 0.807 0.320 11 113410675 3 prime UTR variant C/T snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs75527207
rs75527207
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2018 2018