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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2005 2012
dbSNP: rs121918654
rs121918654
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs12708716
rs12708716
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs12917716
rs12917716
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs1437439236
rs1437439236
3 0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs179363875
rs179363875
3 0.882 0.080 21 44286049 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2009 2009
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2005 2005
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs6161
rs6161
5 0.851 0.080 15 74343027 missense variant C/T snv 2.5E-03 2.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs6498169
rs6498169
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2011 2011
dbSNP: rs8048002
rs8048002
4 0.851 0.320 16 10898131 intron variant T/A;C snv 0.010 1.000 1 2012 2012