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: rs11731003
rs11731003
1 1.000 0.080 4 7388545 intron variant C/G;T snv 0.700 1.000 1 2018 2018
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: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2016 2016
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 < 0.001 1 2003 2003