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: rs10941112
rs10941112
4 0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38 0.050 0.800 5 2002 2015
dbSNP: rs2278008
rs2278008
4 0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74 0.030 0.333 3 2007 2015
dbSNP: rs2287939
rs2287939
4 0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70 0.020 1.000 2 2011 2015
dbSNP: rs3195676
rs3195676
2 0.925 0.080 5 34007995 missense variant C/T snv 0.42 0.41 0.020 1.000 2 2007 2013
dbSNP: rs34677
rs34677
2 0.925 0.080 5 33998663 missense variant C/A snv 0.13 0.11 0.010 < 0.001 1 2015 2015