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: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.800 0.963 27 2003 2019
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 1.000 10 2003 2015
dbSNP: rs1360631927
rs1360631927
4 0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs171140
rs171140
6 0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64 0.010 1.000 1 2008 2008
dbSNP: rs238415
rs238415
4 0.851 0.120 19 45353977 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3916874
rs3916874
4 0.851 0.120 19 45353668 intron variant C/A;G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs748842373
rs748842373
3 0.882 0.080 19 45368728 stop gained G/A;C;T snv 8.1E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs755174338
rs755174338
15 0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05 0.010 1.000 1 2007 2007